Date post: | 04-Apr-2018 |
Category: |
Documents |
Upload: | shankar-reddy |
View: | 239 times |
Download: | 0 times |
of 71
7/30/2019 Differential diagnosis in eye
1/71
Welcome.Learn more about what Wikispaces has to offer.
guest|Join|Help|Sign In
Eye Resident Handbook
Wiki Home
Recent Changes
Pages and Files
Members
Manage Wiki
Top of Form
Bottom of Form
Favorites
94068641
All Pages
94068841
49020141home
48993739Basic Science
67514296Cornea
67302614Glaucoma
67514872Neuro
49037041Ocular Pharmacology
67515230Pediatrics
http://www.wikispaces.com/t/y/searchbannerhttp://www.wikispaces.com/t/y/searchbannerhttp://www.wikispaces.com/t/y/searchbannerhttp://www.wikispaces.com/user/join?goto=http%3A%2F%2Feyeresident.wikispaces.com%2Fspace%2Fjoinhttp://www.wikispaces.com/user/join?goto=http%3A%2F%2Feyeresident.wikispaces.com%2Fspace%2Fjoinhttp://help.wikispaces.com/http://help.wikispaces.com/http://www.wikispaces.com/site/signin?goto=http%3A%2F%2Feyeresident.wikispaces.com%2FPediatricshttp://www.wikispaces.com/site/signin?goto=http%3A%2F%2Feyeresident.wikispaces.com%2FPediatricshttp://www.wikispaces.com/site/signin?goto=http%3A%2F%2Feyeresident.wikispaces.com%2FPediatricshttp://eyeresident.wikispaces.com/http://eyeresident.wikispaces.com/http://eyeresident.wikispaces.com/http://eyeresident.wikispaces.com/wiki/changeshttp://eyeresident.wikispaces.com/wiki/changeshttp://eyeresident.wikispaces.com/space/contenthttp://eyeresident.wikispaces.com/space/contenthttp://eyeresident.wikispaces.com/wiki/membershttp://eyeresident.wikispaces.com/wiki/membershttp://eyeresident.wikispaces.com/wiki/abouthttp://eyeresident.wikispaces.com/wiki/abouthttp://eyeresident.wikispaces.com/homehttp://eyeresident.wikispaces.com/homehttp://eyeresident.wikispaces.com/Basic+Sciencehttp://eyeresident.wikispaces.com/Basic+Sciencehttp://eyeresident.wikispaces.com/Corneahttp://eyeresident.wikispaces.com/Corneahttp://eyeresident.wikispaces.com/Glaucomahttp://eyeresident.wikispaces.com/Glaucomahttp://eyeresident.wikispaces.com/Neurohttp://eyeresident.wikispaces.com/Neurohttp://eyeresident.wikispaces.com/Ocular+Pharmacologyhttp://eyeresident.wikispaces.com/Ocular+Pharmacologyhttp://eyeresident.wikispaces.com/Pediatricshttp://eyeresident.wikispaces.com/Pediatricshttp://eyeresident.wikispaces.com/http://eyeresident.wikispaces.com/http://eyeresident.wikispaces.com/http://eyeresident.wikispaces.com/http://eyeresident.wikispaces.com/http://eyeresident.wikispaces.com/http://eyeresident.wikispaces.com/Pediatricshttp://eyeresident.wikispaces.com/Ocular+Pharmacologyhttp://eyeresident.wikispaces.com/Neurohttp://eyeresident.wikispaces.com/Glaucomahttp://eyeresident.wikispaces.com/Corneahttp://eyeresident.wikispaces.com/Basic+Sciencehttp://eyeresident.wikispaces.com/homehttp://eyeresident.wikispaces.com/wiki/abouthttp://eyeresident.wikispaces.com/wiki/membershttp://eyeresident.wikispaces.com/space/contenthttp://eyeresident.wikispaces.com/wiki/changeshttp://eyeresident.wikispaces.com/http://eyeresident.wikispaces.com/http://www.wikispaces.com/site/signin?goto=http%3A%2F%2Feyeresident.wikispaces.com%2FPediatricshttp://help.wikispaces.com/http://www.wikispaces.com/user/join?goto=http%3A%2F%2Feyeresident.wikispaces.com%2Fspace%2Fjoinhttp://www.wikispaces.com/t/y/searchbanner7/30/2019 Differential diagnosis in eye
2/71
67515606Plastics
48915651Retina
67205690RETINA PAGE 2
67516016Uveitis
Pediatrics
Edit 0 0 6
Tags
Top of Form
79f1f6c0c52ef0c 79f1f6c0c52ef0c
peds
Bottom of Form
View AsPrintPDF
Other NotifyRSSBacklinksSource
DISCLAIMER--PLEASE READ
While every attempt has been made to have dosages, medications, and treatment recommendations as
accurate and up to date as possible, this manual is no substitute for clinical judgement and knowledge.
Tthe authors are not liable for any action taken on the basis of this manual.
Pediatric Ophthalmology
Edited and Revised by Balaji Gupta MD, Meagan Celmer MD
1. Congenital abnormalities
Eyelids
Ankyloblepharon
http://eyeresident.wikispaces.com/Plasticshttp://eyeresident.wikispaces.com/Plasticshttp://eyeresident.wikispaces.com/Retinahttp://eyeresident.wikispaces.com/Retinahttp://eyeresident.wikispaces.com/RETINA+PAGE+2http://eyeresident.wikispaces.com/RETINA+PAGE+2http://eyeresident.wikispaces.com/Uveitishttp://eyeresident.wikispaces.com/Uveitishttp://eyeresident.wikispaces.com/Pediatricshttp://eyeresident.wikispaces.com/Pediatricshttp://eyeresident.wikispaces.com/Pediatricshttp://eyeresident.wikispaces.com/page/menu/Pediatricshttp://eyeresident.wikispaces.com/page/menu/Pediatricshttp://eyeresident.wikispaces.com/space/content?tag=pedshttp://eyeresident.wikispaces.com/space/content?tag=pedshttp://eyeresident.wikispaces.com/Pediatrics?f=printhttp://eyeresident.wikispaces.com/Pediatrics?f=printhttp://eyeresident.wikispaces.com/Pediatrics?f=printhttp://eyeresident.wikispaces.com/page/pdf/Pediatricshttp://eyeresident.wikispaces.com/page/pdf/Pediatricshttp://eyeresident.wikispaces.com/page/pdf/Pediatricshttp://eyeresident.wikispaces.com/wiki/addmonitor?monitorLink=page%3APediatricshttp://eyeresident.wikispaces.com/wiki/addmonitor?monitorLink=page%3APediatricshttp://eyeresident.wikispaces.com/page/rss/Pediatricshttp://eyeresident.wikispaces.com/page/rss/Pediatricshttp://eyeresident.wikispaces.com/page/rss/Pediatricshttp://eyeresident.wikispaces.com/page/links/Pediatricshttp://eyeresident.wikispaces.com/page/links/Pediatricshttp://eyeresident.wikispaces.com/page/links/Pediatricshttp://eyeresident.wikispaces.com/page/code/Pediatricshttp://eyeresident.wikispaces.com/page/code/Pediatricshttp://eyeresident.wikispaces.com/page/code/Pediatricshttp://eyeresident.wikispaces.com/page/history/Pediatricshttp://eyeresident.wikispaces.com/Pediatricshttp://eyeresident.wikispaces.com/page/messages/Pediatricshttp://eyeresident.wikispaces.com/Pediatricshttp://eyeresident.wikispaces.com/page/history/Pediatricshttp://eyeresident.wikispaces.com/Pediatricshttp://eyeresident.wikispaces.com/page/messages/Pediatricshttp://eyeresident.wikispaces.com/Pediatricshttp://eyeresident.wikispaces.com/page/history/Pediatricshttp://eyeresident.wikispaces.com/Pediatricshttp://eyeresident.wikispaces.com/page/messages/Pediatricshttp://eyeresident.wikispaces.com/Pediatricshttp://eyeresident.wikispaces.com/page/history/Pediatricshttp://eyeresident.wikispaces.com/Pediatricshttp://eyeresident.wikispaces.com/page/messages/Pediatricshttp://eyeresident.wikispaces.com/Pediatricshttp://eyeresident.wikispaces.com/page/code/Pediatricshttp://eyeresident.wikispaces.com/page/links/Pediatricshttp://eyeresident.wikispaces.com/page/rss/Pediatricshttp://eyeresident.wikispaces.com/wiki/addmonitor?monitorLink=page%3APediatricshttp://eyeresident.wikispaces.com/page/pdf/Pediatricshttp://eyeresident.wikispaces.com/Pediatrics?f=printhttp://eyeresident.wikispaces.com/space/content?tag=pedshttp://eyeresident.wikispaces.com/page/menu/Pediatricshttp://eyeresident.wikispaces.com/Pediatricshttp://eyeresident.wikispaces.com/Pediatricshttp://eyeresident.wikispaces.com/Pediatricshttp://eyeresident.wikispaces.com/Pediatricshttp://eyeresident.wikispaces.com/Pediatricshttp://eyeresident.wikispaces.com/Uveitishttp://eyeresident.wikispaces.com/RETINA+PAGE+2http://eyeresident.wikispaces.com/Retinahttp://eyeresident.wikispaces.com/Plastics7/30/2019 Differential diagnosis in eye
3/71
fusion of lids
AD with incomplete penetrance
surgery
Blepharophimosis
AD with almost 100% penetrance
congenital tetrad syndrome with epicanthus inversus, telecanthus, blepharoptosis and phimosis
strabismus, nystagmus, microphthalmus, lacrimal drainage problems, short PF, brow hair crossing in
midline, flat brow, infertile females, hypoplastic tarsal plate with tight lower skin leading to ectropion
chromosomes are usually normal
Diff dx when no family history:
Waardenburgs syndrome
Williams syndrome
FAS
Trisomy 18
oculodigital syndrome
Crytophthalmos
Skin covers all ocular structures
Distichiasis
pull, electrolysis, cryo double freeze thaw
surgery split tarsus and pull our each hair
Ectropion
usually with Downs or blepharophimosis
variation with total bilateral eversion of upper lids in newborns with marked chemosis and prolapse of
conjunctiva
Entropion
rare, by defn is isolated
7/30/2019 Differential diagnosis in eye
4/71
surgery based on corneal status
congenital horizontal tarsal kink
180 degree bend of the upper tarsus to appose globe
needs early surgery due to infection and corneal scarring
Epiblepharon
bilateral mild skin excess in lower lid with vertical cilia, most commonly asians
r/o frank entropion
observe and lubricate
surgery for corneal problems with simple excision of skin or Quickert sutures
Epicanthus
rare at birth but up to 20% by 2 yo
palpebralis (simple) equal, most common
inversus - below, often with other abnormalities
tarsalis - above, asians
supraciliaris - from eyebrow
Euryblepharon
horizontally widened PF with anterior and downward placed lateral canthus and ectropion laterally
observe since usually improves, consider tarsal strips procedure
Eyelid Coloboma
usually full thickness isolated defect in upper lid at inner 1/3 junction
20% are bilateral
lower lid at lateral 1/3 often with systemic syndromes, especially AD Treacher Collins
lower lid often partial thickness with adjacent margin deformities such as trichiasis
Cornea
7/30/2019 Differential diagnosis in eye
5/71
Megalocornea
>13 mm (or > 12 mm in newborn)
nl endothelial density
r/o congenital glaucoma
simple
usually isolated, nonprogressive
anterior megophthalmos
bilateral, most commonly XLR
normal lens is too small for ciliary ring and leads to subluxation
F carriers may have slightly larger cornea
iris TI defects
ectopic pupil
increased IOP
cataracts
rarely associated with renal cell cancer
microcornea
7/30/2019 Differential diagnosis in eye
6/71
Axenfeld- Rieger syndrome
ocular
Iris strands and hypoplasia with posterior embyrotoxin
Can look like ICE syndrome
Glaucoma in 50%
high iris insertion
cryptless iris
iris TI defects
corectopia
ectropion uvea
microcornea
megalocornea
systemic
craniofacial anomalies
mental retardation
maxillary hypoplasia
telecanthus
microdontia
skeletal and spine deformities
hypospadias
pituitary gland anomalies
redundant periumblical skin
Peters anomaly
Posterior corneal defect, stromal opacity, and iris strands
80% bilateral
7/30/2019 Differential diagnosis in eye
7/71
often the leukoma clears with time
associated with the PAX6 gene
Congenital opacities
facets, nebula, macula, leukoma
corneal keloid probably from intrauterine trauma
Corneal dermoid, congenital glaucoma
sclerocornea
bilateral or unilateral
central clearer than peripheral cornea
often with other ocular problems
Forceps injury
Localized unilateral opacity with tears of Descemets membrane
Astigmatism and amblyopia
Mucopolysaccharidosis, mucolipidosis
Bilateral diffuse clouding with smooth epithelium
MPS IS (Scheies syndrome)
Mucolipidosis IV
Conjunctival bx reveals abnormal cytoplasmic vacuoles
CHED
Bilateral diffuse opacity with corneal edema and increased corneal thickness
CHSD
AD flaky or feathery stromal clouding with normal thickness and smooth epithelium
Optic Nerve
hypoplasia
non genetic, non-progressive loss of axons before full maturity
7/30/2019 Differential diagnosis in eye
8/71
small disc with yellow ring surrounding it with or without pigment borders
superior segment hypoplasia may be associated with maternal diabetes
variable amounts with variable vision
trial of patching in unilateral cases
associations
maternal DM
young maternal age
first child
intrauterine infections
LSD
ethanol
anticonvulsants
systemic
basal encephaloceles
cerebellar vemis hypoplasia
4th ventricle dilation
posterior fossa cysts
visual pathway tumors
septo-optic dysplasia
(De Morsiers syndrome)
short stature, nystagmus, bilateral ON hypoplasia
less than 10% have useful vision (>20/100)
midline defects of chiasm, septum pellucidum, corpus callosum, hypothalamus, 3rd ventricle, pituitary
gland
cerebral/cerebellar atrophy, hydrocephalus, porencephalic cysts
15-60% have pituitary hypofunction, especially growth hormone
7/30/2019 Differential diagnosis in eye
9/71
Coloboma
sporadic, but AD genetic forms have been identified
ocular
posterior embryotoxin, exudative RD, posterior lenticonus
Systemic
Dandy Walker cyst, absent corpus callosum, encephaloceles
CHARGE syndrome includes coloboma, heart defects, atresia of choanae, retarded growth, genitourinary
abnormalities, and ear problems
Aicardi syndrome with infantile spasms, no corpus callosum, double X chromosome, multiple punched
out lesions
genetic
Chromosomal abnormalities include trisomy 18, 22, 13-15
Mecek Gruber, Goltz, and Lenz Microphthalmia syndrome
Morning Glory
unilateral, nongenetic
usually isolated without other findings
enlarged, excavated ON with central core of glial tissue with a pigmented raised annulus of subretinal
tissue that may have a blue color
usually very poor vision
variety of other ocular signs may be found
up to 30% get serous RD
systemic
basal encephalocele, absent corpus callosum, cleft palate, renal abnormalities
Pupil
Miosis
Abnormal dilator muscle or persistent pupil membrane
Unilateral or bilateral, sporadic or hereditary
7/30/2019 Differential diagnosis in eye
10/71
microcornea
megalocornea
iris atrophy
iris TI defects
myopia
abnormal angle
congenital rubella
Lowes syndrome
Mydriasis
Many are the form fruste of aniridia, esp if central iris structures are missing
Must consider neurologic, pharmocologic, and traumautic etiologies
Retinal
Situs inversus
bilateral in 80%, often in tilted discs
congenital tortuosity
usually arterial, may be AD, associated hyperopia
consider Tetralogy of Fallot, heart defects
prepapillary arterial loops
1:2000, bilateral in 10%, usually inferior artery, not a hyaloid remnant
associated artery obstruction, VH, hyphema
av malformation and Wyborn Mason syndrome
aka racemose angiomas, macrovessels
Wyborn Mason has CNS vasculopathy
Congenital hypertrophy of RPE (CHRPE)
>4 lesions, FH indicative of polyposis
7/30/2019 Differential diagnosis in eye
11/71
lesions quandrant
present in 2/3 of all kindreds
grouped are called bear tracks
can have thin rim of hypopigmentation
hypopigmented spots inside which slowly enlarge
peripheral lesions may be elevated
combined harmartoma
90% present with decreased vision with tumors of posterior pole
+FA leakage from vessels
usually no growth, but contraction of glial tissue
variable pigment
in differential of melanoma and other tumors
persistant hyaloid artery
association with PHPV, prepapillary hemorrhage
2. Ectopia lentis
Ectopia lentis et pupillae
AR, similar to simple ectopia with oval slitlike pupils
often asymmetric and displaced in the opposite direction of the lens
atophic looking, may poorly dilate, iris transillumination defects
up to 30% with nuclear/cortical cataract that can rapidly progress
axial myopia with potential retinal detachment
Homocystinuria
AR, 1/200,000 newborns, five times higher in Irish
absence of cystathionine synthetase resulting in increased homocystine in urine and blood
7/30/2019 Differential diagnosis in eye
12/71
ocular
subluxated lenses inferonasally not present at birth but progressive
90% have subluxation by the third decade
often spherophakic lens which can dislocate into anterior chamber
long axial length predisposes to retinal detachment, esp after surgery
peripheral chorioretinal degeneration
systemic
fair coarse hairfair skinmalar flushpoor peripheral circulationmental retardationmarfanoid
habitusdecreased platelet lifearterial/venous thrombiosteoporosispancreatitisgeneral anesthetia
increases risk of arterial and venous thrombi
dietary management (low methionine and high cystine) may help
Marfan syndrome
AD, most frequent heritable cause of lens dislocation, 4/100,000
15% have no family history
ocular
up to 60% of patients have superotemporal subluxated lenses
can be present at birth, progressive or stationary
iris hypoplasia
iridodonesis
iris transillumination defects
myopia
high astigmatism
keratoconus
miosis
fetal angle with glaucoma
increased axial length and dislocated lenses predispose to retinal detachment
7/30/2019 Differential diagnosis in eye
13/71
systemic
skeletal and cardiovascular defects
antibiotics for SBE prophylaxis prior to surgery
echocardiogram, increased urine hydroxyproline
long extremities
long fingers
joint laxity
pectus excavatums
coliosis
aortic insufficiency
dilation of ascending aortaaortic aneurysm
Simple ectopia lentis
AD, often present at birth
bilateral, symmetric, superotemporal subluxation with iridodonesis
often small spherical lenses
no systemic problems
glaucoma more common with later onset
Weill Marchesani Syndrome
AR, 1:100,000
spherophakia, ectopic lens inferonasally with eventual dislocation
high myopia up to 20 diopters
episodic pupil block glaucoma are almost inevitable and is worsened with miotics
cycloplegics can induce pupil block
stubby broad hands and feet
joint stiffness
7/30/2019 Differential diagnosis in eye
14/71
muscular appearance
thick skin
Misc
congenital glaucoma
Ehlers Danlos
hyperlysinemia
sulfite oxidase deficiency
Lowes syndromeaniridia
3. Glaucoma
1/2 of all childhood glaucoma is secondary and acquired
Congenital
M>>F, worse prognosis if at birth (10%), infantile much better
over 80% are diagnosed by 12 months of age
tearing
photophobia
blepharospasm
bilateral in 75%
IOP >20
peripheral iris vessels
iris processes
high iris insertion
corneal edema
corneal enlargement
Haabs striae
7/30/2019 Differential diagnosis in eye
15/71
genetics
most cases are sporadic
affected parent has 5% chance of having affected child
no hereditary relationship to POAG or steroid response
measurements
normal eye at birth has
7/30/2019 Differential diagnosis in eye
16/71
ectopia lentis
aniridia
congenital cataract
trauma
familial iris hypoplasia(AD)
aphakia
Metabolic
Lowes syndrome
mucopolysaccharidosis
Systemic
Neurofibromatosis type 1
Rubella
chronic uveitis
Down syndrome
Rubinstein-Taybi syndrome
Oculodentodigital syndrome
Aniridia
1:100,000
20/200 Visionnystagmusmacular hypoplasiaoptic nerve hypoplasia (75%)congenital
cataractssubluxationmicrophakiacorneal hazeprogressive pannus glaucoma
common cause of blindness in 30-50% of pts
due to angle closure as well as mesodermal tissue in angle
poor surgical results with vitreous loss and cataracts
AN1 (85%)
familial with isolated ocular manifestations in AD pattern with complete penetrance but variable
expressivity
2/3 of patients have affected parents
usually punctate cortical opacities needing surgery 30-40 yo
AN2 (13% )
del of short arm chrm 11p-
7/30/2019 Differential diagnosis in eye
17/71
sporadic nonfamilial associated with Wilms tumor (nephroblastoma)
may get visually significant nuclear cataracts
1/4 with Wilms tumor which is often diagnosed before age 5
GU abnormalitiessevere mental retardationfacial dysmorphismhemihypertrophylong facieslow set ears
with poor lobesMillers syndrome
WAGR (Wilms tumor, aniridia, genitourinary abnormalities, mental retardation)
AN3 (3%)
Gillespiess syndrome, AR, with mental retardation and cerebellar ataxia
no Wilms tumor, CT shows abnormal structure of brain
normal macula and optic nerve
4. Infections
Ophthalmia Neonatorium
Conjunctivitis in the newborn period
Affects only 0.1% of neonates with prophylaxis
all prophylaxis effective against GC, not against TRIC
10% of cervix with GC or TRIC
W/U gram/giemsa (cytoplasmic inclusions), blood and chocolate conjunctival cultures, DFA or
chlamidiazyme
GC and TRIC infections may be associated with systemic disease
CLINICAL EXAM CANNOT DEFINE ETIOLOGY
GC
Hyperacute with purulent discharge
PCN IV 100,000 units/kg/day qid x 7days in isolated setting
note the emergence of some resistant strains to penicillin with an alternative regimen IV cefotaxime
irrigate with saline q4, AS 0.5% bid
7/30/2019 Differential diagnosis in eye
18/71
RPR, FTA, and notify public health
TRIC
3-13 weeks of age
TC ungt 1% tid x 3 wks, Erythromycin 50mg/kg P.O. qid x 2 wks
if fails (10%) repeat/Bactrim 0.5 ml/kg/day bid x 2 wks
treat the parents
check for otitis media, pneumonitis
HSV
only in a systemic disease setting
chemical (toxic) conjunctivitis
Misc
many bacteria have been cultured, but ? pathogens
if w/u negative, use topical agents of choice
Preseptal/Orbital cellulitis
Staphylococcus, Streptococcus, and H. flu most common
sinusitis is a common cause of orbital cellulitis
other causes include URI, trauma, minor skin faruncle, dental disease
blood cultures positive only 5% in post septal cases
age may suggest a more benign course with
7/30/2019 Differential diagnosis in eye
19/71
Limitation of movement
APD, color vision loss
demarcation of skin findings at end of orbital septum
TORCHS
Toxoplasmosis
3,000 children affected every year
70% pregnant women seronegative
although placental transfer common in infected mothers, many infants will be normal
IgM in infants is highly suggestive
systemic disease
hepatosplenomegaly
diarrhea
vomiting
anemia
convulsions
hydrocephalus
CT with intracranial calcifications
ocular
80% of patients with systemic disease have ocular involvement
up to 1/3 of children have bilateral visual loss
will have unilateral visual loss
isolated eye involvement is rare
bilateral retinochoroiditis involving the macula
microphthalmos
7/30/2019 Differential diagnosis in eye
20/71
Cataract (10%)
Nystagmus (25%)
Strabismus (30%)
optic atrophy
Can even consider treating prior to birth in cases of known acquisition during pregnancy
Rubella
80% infected if mom gets it 1st trimester
of these 80% get defects, 50% have ocular problems
salt/pepper retinopathy
cataracts
glaucoma
iridocyclitis
corneal opacities
iris hypoplasia
microphthalmia
rare to have glaucoma and cataracts
all are over 20 yr old, uncommon congenital condition in U.S.
CMV
2% of all newborns get it (most common congenital infection) but 95% is subclinical
maternal viremia is most common method of transmission, but can occur during birth
consider lab studies in any newborn with congenital ocular defects not explained by other causes
systemic
fever
hepatosplenomegaly
jaundice
7/30/2019 Differential diagnosis in eye
21/71
deafness
pneumonitis
seizures
periventricular calcifications
motor retardation
microcephaly
ocular
variable and nonspecific
necrotizing retinitis
hemorrhage
cataracts
iridocyclitis
optic nerve atrophy
Peter's
strabismus
nystagmus
up to 1/4 of severely affected infants have bilateral retinochoroiditis in multiple areas
Lab
IgM in a neonate is strong presumptive evidence
liver bx and studies of cells in the urine
CT calcifications
Congenital HSV is type 2
Acquired either transplacentally or retrograde through vagina
Up to 50% of infants can acquire it if mother has active lesions at birth
Some are asymptomatic with ocular symptoms later on
7/30/2019 Differential diagnosis in eye
22/71
skin vesicles, conjunctivitis, keratitis, cataracts, retinitis
Syphilis
90% infected if mom has primary or secondary syphilis
systemic
bone
bone marrow
lungs
hepatosplenomegaly
CNS
failure to thrive
moist lesions of anus and mouth
rhinitis
saber shins
Hutchinson's triad: peg teeth, sensorineural hearing loss, interstitial keratitis
ocular
bilateral salt/pepper retinopathyglaucomairitiscataractsVaricella
rare clinically
CR scars, Horner's, optic nerve hypoplasia, microphthalmia
can have severe vitritis/retinitis, anterior uveitis
5. Leukocoria
Cataracts
1/3 genetic, 1/3 diseases, 1/3 idiopathic
monocular are not metabolic or genetic
7/30/2019 Differential diagnosis in eye
23/71
capsule forms in 5th week and limits entry of organisms
opacities >3mm are visually significant
Anterior
polar
1/3 are bilateral
abnormal separation of lens from surface ectoderm
90% sporadic
pyramidal
2 mm projecting cone with surrounding cortical opacity
bilateral and sporadic
subcapsular
idiopathic, trauma, often acquired
lenticonus
Alports
X linked dominant
Difficult capsulorhexis
Chronic steroid use may present with PSC cataracts
hereditary nephritis
sensorineural deafness
PPMD
whitish dots in macular and mid periphery
Central
Nuclear
either the embryonic or fetal nucleus
7/30/2019 Differential diagnosis in eye
24/71
usually non-progressive
bilateral are often AD inherited
Sutural
Lamellar
acquired usually after 6 months
progressive
hypoglycemia and galactosemia can cause lamellar pattern
Posterior
Posterior lenticonus
looks like PSC, bowl like central outpouching
unilateral, progressive
at surgery, post capsule often thin wispy and difficult to peel off opacity
PHPV
posterior capsular
associated with Downs syndrome
Oil Drop cataract
associated with galatosemia
Lowe's
XLR
Systemic
hypotonia
hyporeflexia
mental retardation
Aminoaciduria
metabolic acidosis
7/30/2019 Differential diagnosis in eye
25/71
growth retardation
renal failure
often with early death
ocular
most commonly small thick opaque bilateral cataracts
pupils can be very miotic with lens adhesions
female carriers have white punctate opacities throughout their lenses
glaucoma in 50% by age 6 but can be early on
corneal keloids
Hallerman Streif
Labs
especially to exclude Lowe's, galactosemia
consider TORCHS titers even in unilateral cases
Urine
reducing substances, aminoacids, blood/protein
copper, sediment
Blood
Ca+2/phos, glaucoma, amino acids, TORCHS serology, others
PHPV
wide spectrum of presentation
congenital, nonhereditary, usually unilateral
not associated with other defects except cataracts
retinoblastoma is rarely found in microphthalmic eyes
7/30/2019 Differential diagnosis in eye
26/71
elongated ciliary processes
microphthalmos
shallow anterior chamber
radial iris vessels
retinal detachment
retrolental plaque
intraocular hemorrhage
angle closure glaucoma
US/CT very diagnostic
natural history of untreated eyes with moderately severe disease is progressive shallowing of anterior
chamber, cataract formation, and angle closure glaucoma
Pseudogliomas
benign neoplasm
astrocytic hamartoma
can mimic RB, involvement of disc, multifocal, bilateral
usually with tuberous sclerosis, rarely with neurofibromatosis
little postnatal growth
von Hippel angioma
medulloepithelioma
uveitis
nematode endophthalmitis
usually older boys, inflammation more
inactive lesions show more changes than RB (cataract, synechiae, etc)
ELISA + 90% with 1:8 dil
7/30/2019 Differential diagnosis in eye
27/71
retinitis, old VH
Non-rhegmatogenous retinal detachment
Coats'
usually older boys age 8-10 years old
anomalous grapelike clusters of leaking blood vessels
serous RD with dilated vessels can look like retinoblastoma
aneurysmal dilation can look like angioma, but no feeder vessels
about one half of untreated patients will progress
treatment includes laser and cryotherapy
retinal dysplasia
juvenile retinoschisis
Misc
retinal hemorrhage
retinal folds
colobomas
Retinoblastoma
1:20,000 births, becoming more common
6% with FH, 25% have genetic mutation 13q14 with low esterase D levels
1-3 y.o., present older when unilateral
70% are unilateral with 30% bilateral
1/5 of unilateral on presentation get 2nd eye affected later
the differential dx of inflammation is the most difficult
leukocoria most commonstrabismusinflammation (pseudohypopyon)Ca2+vitreous seedingnormal size
globeglaucomahyphemaheterochromiafixed pupilserous RD with dilated vesselssigns different for
endophytic/exophytic
metastasis late with spinal cord, bone, skull, lymph nodes, abdomen
pineal gland trilateral tumor with very poor prognosis
up to 50% with secondary cancers especially osteogenic sarcoma, fibrosarcoma, rhabdomyosarcoma
many years later
Genetic risk
history
determine if germline or somatic
germline in multiplex and multifocal cases
simplex disease with unifocal RB has 12% risk for germline mutation
remember carrier status due to 80% penetrance
7/30/2019 Differential diagnosis in eye
28/71
unaffected parents with one child mutifocal RB have 6% risk for second child
examine family for regressed retinocytoma
Molecular genetic analysis
can find the specific gene mutation using Southern blotting
RFLPs to do linkage studies
Diffuse infiltrating RB
(1%) likely to be missed
occurs later (6 y.o.), unilateral, grows slower
RX
CT, MRI: look for calcification, pineal gland
U/S: A scan with high internal reflectivity and echo spikes from calcification, B scan with orbital
shadowing
bone scan, bone marrow, lumbar puncture as needed
with massive tumor, enucleation may be primary procedure
external beam radiation, Episcleral plaque, Photocoagulation, cryotherapy
systemic chemotherapy
regression
TI cottage cheeseTII fish fleshTIII combo of aboveTIV white sclera5 yr survival >90%, poorer with
metastasis
Histology
Flexner Wintersteiner rosettes -an attempt to make photoreceptors with clear lumen
fleurette with outer segs of photoreceptors
Homer Wright rosette- lumen with neurofibrillary material, also in medulloblastoma, neuroblastoma
pseudorosette-tumor around necrosis
viable tumor around vessels with areas of necrosis
ROP
85% of ROP is transient disease with spontaneous regression
examine all children born under 32 weeks or weighing less than 1,500 gm
CRYO-ROP study had 6% of children
7/30/2019 Differential diagnosis in eye
29/71
cryotherapy or indirect laser
6. Neuroophthalmology
CN palsies
congenital
IIIrd
maldevelopment, intrauterine injury, or birth trauma
1/2 of all IIIrd palsies in children
usually one eye and isolated with ptosis, ophthalmoplegia, and pupil involved
usually dilated but may be miotic with aberrant regeneration esp with adduction
other than birth trauma, most are permanent
IVth
common, compensated until later in life
VIth
unilateral isolated finding rare and usually due to birth trauma
most common congenital disorder with VI nerve is Mobius and Duanes syndromes
often is transient
acquired
VI
differential includes myasthenia gravis, myositis, and trauma
benign
usually recover by two months, otherwise image
can be recurrent and even in other eye
pseudotumor cerebri
pontine glioma
will develop other signs usually within two weeks of onset
7/30/2019 Differential diagnosis in eye
30/71
INO, gaze palsies, VII nerve dysfunction
posterior fossa tumors
Horners syndrome
in infantile cases, the third order neuron may degenerate transynaptically, so always investigate the
second order neurons
20% will have some pathology which will develop within the first 18 months
heterochromia is a soft sign for pathology
consult from pediatrics commonly with physiologic anisocoria, so test with cocaine to confirm diagnosis
true congenital
birth trauma from forceps or shoulder dystocia
aquired
almost always with ipsilateral sympathetic chain
chest lesions are always left sided since the right side sympathetic chain does not descend into the chest
most common cause is neuroblastoma
CNS tumorssyrinxinfiltrative lymphomavascular lesionspost ganglionic lesions are less common and
often with vascular etiology of ICA
workup
history, palpate abdomen, pharmocologic localization, CXR, urine levels of metanephrine, brain and neck
MRI
Hydrocephalus
nl LP in children is 180 mm water
+ venous pulsations means ICP is < 200 mm water
most common infantile causes include chiari malformation, dandy walker cyst, aqueductal stenosis,scarring due to meningitis
decreased upgazelight near dissociationabduction weaknessON atrophynystagmusXT with A
patternNystagmus
7/30/2019 Differential diagnosis in eye
31/71
warning signs for further workup include
vertical componantsintermittant naturenon conjugatenew onsetloss of visionRetractionOptic nerve
pallorInanitionCongenital
bilateral, conjugate, pedular horizontal nystagmus
fixation often makes it worse, may be better at near than far
head turn with null point is almost always evidence of congenital origin
differentiation is important since congenital nystagmus is a benign condition
disappears with sleep
Motor
No ocular abnormality, normal visual potential
decreased foveation time leads to decreased visual acuity
jerk with pedular component and null point
often have abnormal head positions to achieve null point
Latent
benign, never pathologic
only seen on monocular gaze
fast phase toward uncovered eye
in reality, most of these have a fine nystagmus at all times
test Va with +10 occluder
Manifest Latent
jerk nystagmus in patients with strabismus due to suppression
fast phase in direction of fixing eye
can become latent if eyes are aligned
if eyes are straight, then one must have visual loss
Sensory
pathology from cornea to optic nerve such as macular hypoplasia from albinism, aniridia, optic nerve
hypoplasia
nystagmus starts in the first few months
often develop nystagmus with severe sensory loss before age 2
can get nystagmus with visual loss up to age 4, and never after age 6
7/30/2019 Differential diagnosis in eye
32/71
pendular with occasional jerk movements, slow searching conjugate movements
carefully check media, refraction, foveal hypoplasia, and optic nerve atrophy/hypoplasia
Spasmus Nutans
onset 4-14 months rare to start after 3 years
vision good, but can have strabismus, amblyopia
nystagmus, torticollis, and head nodding (slow freq, 2-25 degrees)
dissociated assymetric high frequency (15 hz) small amplitude nystagmus
often have increased head bobbing when focusing on objects as this may suppress nystagmus and
improve vision
always check for optic atrophy, APD, decreased eating as associated signs of intracranial tumors
get MRI due to association with abnormal brain findings
usually goes away, often in less than one month, but can last 1-2 years
Diff dx:
CNS tumors especially chaismal gliomamonocular blindnesscongenital nystagmus
Downbeat
usually seen down/left or down/right more than straight down
lesion of cervicomedullary junction
Arnold-Chiari TII
multiple sclerosis
spinocerebellar degeneration
lithium, phenytoin
CVA (vertebral basiler system)
syringomyelia
neoplasm
7/30/2019 Differential diagnosis in eye
33/71
platybasia, basiler invagination
Vit B12, thiamine, magnesium def
paraneoplastic syndrome associated with Hodgkins lymphoma, breast, ovarian, and small cell
Upbeat
if seen in primary upgaze, usually pathologic
involving cerebellum or brainstem
if seen in eccentric gaze, may be gaze evoked
Gaze evoked
stabilized with fixation, increased with darkness, visual blur
posterior fossa or drugs
Periodic alternating nystagmus
horizontal, jerk changing direction from one side to other over a few minutes
often with changing head position
may have skew deviation, downbeat nystagmus
congenital
may be subset of congenital nystagmus (up to 5%)
Kestenbaum may not work due to changing AHP
consider four muscle recession
associated with albinism
acquired
cerebellar disease, bilateral visual loss, neurodegenerative conditions
check posterior fossa and craniocervical areas
MR to r/o Arnold Chiari
rx with baclofen
Superior oblique myokymia
7/30/2019 Differential diagnosis in eye
34/71
monocular episodic intorsion, oscillopsia or shimmering
brief, lasting seconds, but patients very aware of onset and end
can be induced by looking into field of action of SO or back to primary
can have intermittant SO OA and loss of elevation in adduction
can be the only symptom of midbrain tumor, consider imaging
natural hx of remission and relapses
INO
adduction lag with nystagmus in abducting eye
from interruption of MLF fibers
diff dx of myasthenia, MS, CVA, partial IIIrd, thyroid eye disease
See Saw
acquired form with intorting eye rises with extorting eye falling
often with INO
congenital form with either absent torsion or opposite
midbrain, chiasm, or otolith
craniopharygioma
pituitary tumors
CVA
trauma
septo optic dysplasia
Convergence-retraction
Vestibular nystagmus
Peripheral
unidirectional, rotary, uniplanar
greatest in gaze of fast componant
7/30/2019 Differential diagnosis in eye
35/71
usually vertigo, tinnitus, deafness
labrynthitis, ischemia, trauma, toxic
Central
unilateral or bidirect, may change direction
ear symptoms less severe
trauma, CVA, tumor, demylination
Optic neuritis
rare, more often bilateral with disc edema
may be less likely to develop MS
7. Phakomatoses
Ataxia Telangiectasia
AR, chromosome 11
ocular
nystagmus, strabismus
bulbar conjunctival telangiectasia especially at canthi, are venules, usually seen by 5 yo
oculomotor apraxia with head thrusts, loss of OKN, poor saccades
systemic
ataxia in infancy or soon after walking with subsequent neural deterioration
telangiectasia of ears, face, bridge of nose, extensor surfaces
many cancers including lymphomas and leukemias
immunocompromised with low IgA, increased ESR, CEA
mortality from sinopulmonary infections
carriers for the gene are more likely to develop malignancies and are more sensitive to radiation
Incontinentia Pigmenti
7/30/2019 Differential diagnosis in eye
36/71
patients often referred from dermatology after bx
Bloch-Sulzberger type F, congenital X-linked dominant (lethal to males)
systemic
dental defects (60%)
CNS (30%) includes mental retardation, seizures, hydrocephalus, cerebral ischemia and edema
ocular (30%)
can look like ROP
AV anastomoses/ peripheral neoavascular zones
exudates
VH
cataracts
optic atrophy
palpebral conjunctival nevi
patchy retinal mottling
foveal hypoplasia
peripheral colobomas
nystagmus
strabismus
skin lesions
S1 appears like viral exanthem with papules, macules, and bullae over trunk/limbs and bx revealing
intraepithelial vesicles filled with eosinophils
S2 are verrucous
S3 hyperpigmented whorls and streaks from 3-6 months of age and there is absence of pigment in basal
epithelium
JXG
usually diagnosed
7/30/2019 Differential diagnosis in eye
37/71
M=F, skin heals in 1-2 years without problems
in general, a benign condition
ocular
can occur without skin lesions
usually unilateral
spontaneous hyphema from rupture of tumor vessels
glaucoma secondary to direct trabecular obstruction
uveitis can be with minimal anterior chamber involvement only or may simulate posterior scleritis
heterochromia secondary to diffuse iris involvement
iris or ciliary body tumor with either nodular or diffuse infiltration
tumors can occur on eyelids (common), orbit (with bony destruction), cornea, and epibulbar tissues
generally without spontaneous involution in eye, so may need to excise, steroids
pathology
skin or iris biopsy and anterior chamber tap
classically with foamy histiocytes and Touton giant cells
Touton giant cells can be found in aqueous
Oil red O can be positive on frozen sections
immunohistochemistry can be useful
Neurofibromatosis Type I
AD, 1:3000, progressive with variable expression, chromosome 17
Cafe au lait spots
present by 1 yr, >6 over 0.5 cm, grow, anywhere on body
freckling develops later in intertriginous areas
Neurofibromas
nodular or diffuse (rare), benign but functional/cosmesis problems
7/30/2019 Differential diagnosis in eye
38/71
plexiform difficult to treat (see plastics)
histo neurons, Schwann cells, fibroblasts, mast cells, vessels
increasing superficial subcutaneous involvement is associated with less deep orbital involvement
Lisch nodules
indicates mutation at NF1 locus on long arm chromosome 17 affecting guanosine diphosphatase
activating protein
> 90% of pts over 6 y.o., increase in number
no correllation with severity or prognosis
usually bilateral, well defined dome shaped, gelatinous, elevated with smooth contour
typically less pigmented, yellow or tan, variable in size, height, and distribution
fleshy or velvety texture and often with glassy translucent character
Other findings
absence of sphenoid bonemeningiomasoptic nerve gliomaglaucoma especially on side of lid and facial
involvementthickened corneal nervesastrocytic harmartomasscoliosisIncreased incidence of JXGoptic
nerve glioma
aka Juvenile Pilocytic astrocytomas
PPLOV with APD, proptosis, increased ICP
most often in first decade (avg 3-4 yo)
usually more extensive ON and chiasmal involvement with NF1
if normal MRI scan by 2 yo, then unlikely to develop
up to 15% of NF1
increased mortality with chiasmal involvement
observe, radiation, surgery, biopsy
proliferating spindly astroglia or oligocytes, Rosenthal fibers
NF TII
Chromosome 22
acoustic neuromas
may have VII n involvement secondarily
ON glioma > 50%PSC and cortical cataractslagophthalmoscorneal hypesthesiadecreased lacrimal
secretionRetinal harmartomasSturge-Weber syndrome
no hereditary pattern
classic form includes facial hemangioma, ipsilateral intracranial hemangioma, ipsilateral choroidal
hemangioma, and congenital glaucoma
systemic
cutaneous
usually V1, V2 distribution not crossing midline
deep purple in adults with partial blanching
facial hemihypertrophy
if there is no supraorbital facial involvement, neurologic features are often absent
CNS
subarachnoid racemose angioma of venules with an associated maldevelopment of nearby cerebral
cortex
7/30/2019 Differential diagnosis in eye
39/71
calcifications of meninges, cortex as early as 1 y.o. and does not progress after age 20
these can form the railroad track sign of curvilinear doubled lines in the occipital and temporal lobes
decreased IQ in up to 50% of patients
localized seizures of the contralateral side and may become generalized
ocular
subconjunctival vessels
iris heterochromia, retinal tortousity
choroidal hemangioma
up to 50% of patients have a flat diffuse choroidal hemangioma
yellow-orange, minimal elevation, diffuse, most commonly in posterior pole but usually involves over
50% of the choroid
in children it may not be apparent except for the deep red coloring which has been labeled tomato
catsup fundus
slowly growretinal and choroidal degenerationgliosisSRNVMserous retinal detachmentfocal
calcificationmarked early hyperfluorescenceglaucoma
1/3 develop glaucoma with congenital > adult onset
most often when the eyelid is involved
angle abnormalities vs increased episcleral pressure
uncommonly bilateral, or bilateral glaucoma, visceral angiomas
Rx
skin lesions are treated with argon or dye laser, cosmetics
surgery risk of hemorrhagic expulsion/effusion
standard goniotomy, trabeculotomy have had poor success
some success with trabeculectomy with adjuvant MMC
associated syndromes
Klippel-Trenaunay-Weber syndrome
Tuberous Sclerosis
AD, chromosome 9 but new mutations are evident in 80% of new cases
systemic
neurologic
mental retardationepilepsyabnormal EEGlarge cortical massesintracranial calcifications of astrocytic
harmartomas especially in basal ganglia
skin lesions
ash leaf signcafe au lait spotsadenoma sebaceum
(80% ages 2-5 yo)shagreen patches (leathery, raised)peau d'orange in lumbosacral regionperiungal
fibromassubcutaneous nodulesdepigmented nevimisc
sclerosis of skullrenal cystsangiomyolipomasrhabdomyomas of heartWilms tumoraortic aneurysm
ocular
involved in 1/2 of patients
giant astrocytic hamartomaVF defectssmall flat gray white astrocytic hamartomas of
7/30/2019 Differential diagnosis in eye
40/71
NFLpoliosishypopigmented iris spotspapilledema
8. Plastics
hypertelorism is increased distance between medial orbital walls
telecanthus is increased distance between medial canthi
exorbitism is widely divergent lateral orbital walls (>90 deg)
Document palpebral fissure (PF)
Often with poor lid crease and levator function
Check tear function and corneal staining
PF increases on downgaze
Check for jaw winking and Bell's phenomenon
Occlusion amblyopia is rare, most often anisometropic amblyopia from induced astigmatism
Must carefully observe these infants for fixation preference
Rx
Indications for early surgery include occlusion and chin up head position
If levator function is present, then consider levator resection, aponeurotic surgery
Frontalis sling using a variety of suspension materials is commonly performed with poor levator function
1/2 of patients with banked fascia lata have late ptosis
Tearing
congenital dacryocele
refer to ENT to look for polyps, look up the nose as well
bluish cystic swelling medially with epiphora in first few wks of life
F>M, isolated finding, NLD obstruction with functional proximal obstructionDifferential dx
encephalocelemucoceledermoidcapillary hemangiomasudoriferous cystRx
conservative rx >50% will resolve (soaks, massage, topical antibiotics)
surgery (probing, DCR) if dacryocystitis, cellulitis, respiratory distress, no resolution in 1-2 wks
can recur with surgery
Congenital NLD obstruction
evident in 2-4% of babies stating at 1-2 wks after birth
1/3 bilateral, most systems become patent within 6 wks, 90% within one year
check puncta, causes for reflex tearing including conjunctivitis, epiblepharon, or congenital glaucomainspect medial canthus for distended sac or congenital defects
digital pressure over the sac revealing mucopurulent discharge is highly suggestive of NLD obstruction
usually at level of valve of Hasner
rx with observation and antibiotics, probing, repeat probing, intubation, and DCR
7/30/2019 Differential diagnosis in eye
41/71
Orbital Tumors
90% are benign usually cyts, most mal are rhabdo
Rhabdomyosarcoma
rapid proptosis with good Va, extraconal, often down
palpable often preseptal, 7 yo, M>F
CT shows irregular mass with uniform density
low to medium amplitude internal reflectivity with ultrasound
surgery
bone marrow bx, LP
fix in formalin and glutaradehyde for EM sections
pathology
embyonal most common, alveolar (worst, inferior), pleomorphic (best, least), botryoid (sinus invasion)
treatment
radiation 4-6000 cGys
adjuvent chemotherapy (vincristine/doxorubicin/cyclophosphomide) with good survival
Lymphangioma
50% present in preschool years
most commonly presents with gradual proptosis during the first few years of life
episodes of dark blue superonasal swelling, orbital hemorrhage or proptosis (avg 6 mm) during later
years
indolent growth with recurrent hemorrhage (can have N/V in children)
paindiplopiasudden enlargement with URIhemorrhage (chocolate cysts)conjunctival ectatic lymph
channelslid ecchymosisepistaxis (lesions in sinus/pharynx)ON edema/atrophyproptosis increases with
valsalva
1/3 of posterior lesions are intraconal
infiltrative, unencapsulated, large serum spaces, lymph follicles
CT lesions often appear as a solid mass with phleboliths (1/2)
Rx
conservative
some lesions arborize, bleed easily, and incorporate arteries
anterior lesions more easy to dissect out
may consider aspiration of hemorrhage, CO2 laser, debulking anterior lesions
Pseudotumor (pediatric)
In children, presents more like orbital cellulitis
nonspecific, idiopathic, benign inflammatory process with polymorphous lymphoid infiltrate with
varying amounts of fibrosis
up to 15% of all pseudotumor
7/30/2019 Differential diagnosis in eye
42/71
more recurrent in children
spontaneous orbital hemorrhage
peripheral eosinophilia in 1/3
CT ring sign of scleritis, tendons inflamed, diffuse infiltrate with streaky edges
Systemic steroids have dramatic effects
Fibrous Dysplasia
fibrous bone growth usually of multiple bones, 8 y.o.
rapid growth with stability after puberty
Albright's syndrome, systemic, skeletal bones, precocious puberty, abnormalities skin pigment
observe unless optic nerve compression
CT is best to image lesion, tumor has ground glass appearance
spicules of immature bone and osteoid with fibrous stroma
Ossifying Fibroma
only occur in facial bones
aggressive growth pattern needs total surgical excision
CT sclerotic margin with less radiodense center and foci of calcification
spicules of lamellar bone and osteoblasts present
Osteoma
slow growing along frontal/ethmoid sinus wall or others
extremely radiodense well circumscribed masses
usually subtotal resection for symptoms
Neuroblastoma
Mean age at diagnosis is 2 years old in orbital cases
prognosis depends on age of onset and bone metastasis
ocular
up to 1/2 have metastasis to orbit, but only 20% show clinical evidence
ecchymotic lids, unilateral or bilateral exophthalmos,Horner's syndrome, opsoclonus
bx extraperiosteally to avoid spread and fix in formalin/glutaraldehyde
Horner's syndrome may represent localized neuroblastoma in the neck or chest with a better prognosis
systemic
originates in adrenal glands or the sympathetic ganglion chain in the retroperitoneum or mediastinum
systemic metastasis to abdomen, thorax, bones
metastasis to lateral orbit with bone destruction and cranial metastasis
catecholamines in urine
pathology
sheets of round cells with neurosecretory granules
no Homer Wright rosettes in metastasis
Eosinophilic Granuloma
7/30/2019 Differential diagnosis in eye
43/71
superotemporal quadrant, M>F, F, Asia/African
Ectopic tissue masses
Choristoma
Growths of normal tissues in abnormal areas
Dermoid Cyst
preschool years
anterior to septum, smooth, painless, usually lateral superior rim, approximately 1 cm
progress slowly, can grow rapidly with trauma and inflammation
keratin filled cyst lined with epithelium, filled with adnexal structures
deeper cysts often underestimated in size; may extend intracranially after fossa formation and are
usually found in older patients
CT
image to r/o deeper intracranial involvement
focal defects of orbit bony wall, bone attenuation, or bone sclerosis
sharply defined margins with central low density, but often heterogenous densities
surgery
usually fibrous attachments to bone or suture
recurrence most often with remnants inside bone
may have to remove remnants off of lateral orbital rim
Teratomas
aberrant pluripotential germ cells with all three embryonic layers
may present with massive proptosis at birth
unilateral, cystic with rapid growth
CT heterogeneous cystic lesion with intracranial spread
surgical rx
poor vision due to optic nerve damage
most teratomas occur in the gonads or sacrococcygeal region
7/30/2019 Differential diagnosis in eye
44/71
Encephalocele
infancy or childhood with superomedial exophthalmos that may pulsate
often protrudes with valsalva or dependent position
cystic, fluctuant and reducible, and easily transilluminates
must have skull deformity of frontoethomoidal area or sphenoid dysplasia
other signs of CFA with hypertelorism, broad nasal bridge, and malar and orbital floor depression
common
may be associated with colobomas, optic nerve atrophy, microphthalmos, and optic nerve gliomas
r/o neurofibromatosis
may be ptotic with pulsating enophthalmos due to inferior floor loss
greater injury with mild trauma
imaging, neurosurgery
Limbal Dermoid
Inferotemporal with minimal postnatal growth
May contain hair follicles
Amblyopia due to astigmatism
Lipodermoid
Overlying epithelium is normal and hair follicles are absent
Can be extensive
Surgical excision should be conservative
Capillary hemangioma
1-2% of newborn children have it with 40% in head and neck, F>M
1-2 wks postnatal, blanch, invasive, swell with crying, compressible
grow up to 12 months and regress after age 2 (1/2 completely by 4 y.o. and 3/4 by 7 y.o.)
upper lid, supranasal orbit with proptosis
treat to prevent amblyopia secondary to occlusion, strabismus, and anisometropia
severe cases can cause thrombocytopenia with platelet entrapment, optic atrophy, exposure keratitis,
and skin ulceration
steroids
Oral:
1.5 - 2.5 mg/kg prednisone over weeks
Injection:
40 - 80 mg triamcinolone with 6 - 12 mg of betamethasone
minimal response in 10%
risks include emboli, lid necrosis, fat atrophy, pigmentary changes, adrenal suppression
Topical:
surgery
lid crease or transconjunctival, avoid entry into lobular mass which is usually encapsulated
cauterize feeder vessels
best for isolated orbital masses rather than large areas of skin
7/30/2019 Differential diagnosis in eye
45/71
risks include blood loss, scarring
9. Retina
Vitreoretinopathies
All AD exept Goldman Favre
Stickler's
high myopiacataractperipheral vitreal veilsstrabismusperivenous radial lattice with RDEctopia lentiscleft
palatePierre-Robin micrognathiahyperextensibilityArthritisCardiac defectsmid facial flattening
FEVR
AD with variable expression
dragged macula with temporal traction
abrupt end of vessels in a scalloped edge temporally
can look like ROP with neovascularization and RD in up to 30%
intraretinal hemorrhage/lipid in less then 10%, thus can mimic Coat's
rare nystagmus/strabismus
most RD occur before age 10 and then patients are stable
over 50% of patients will have normal vitreous
examine family members for subtle areas of peripheral avascular zones
Goldman Favre
AR
present between 10 and 20 years old with nyctolopia
often 20/200 in childhood
extensive peripheral retinoschisisbeaten copper maculapoor visionRPE changesbone spiculesvitrealstrandsPSC cataractsHVF similar to RP with ring scotomas
Albinism
See Retina
Leber's congenital amaurosis (rod cone dystrophy)
Hyperopia, sluggish pupils
AR
Most with normal posterior pole exam in infancy
Oculodigital reflexcataractskeratoconuskeratoglobuslate bone spicule pigmentblood vessel
attenuationretinal white dotsextensive chorioretinal atrophymarbelized retinadisc edemaMacular
"coloboma"nystagmusERG is reduced
Because of reported cases of Refsum disease and Bassen Kornzweig syndrome, consider blood lipid
profile, peripheral blood smear looking for acanthocytes, and serum phytanic acid levels
Achromatopsia
stable VA
complete (AR) and incomplete (AR and XL)
7/30/2019 Differential diagnosis in eye
46/71
better VA in the darkphotophobiahyperopic astigmatismparodoxic pupilsno color visionpoor central
visionnystagmuscone ERG reduced, rod normal
CSNB
XL, AR, AD
myopiastable but decreased VAnystagmusnyctalopiaparodoxic pupilsAttenuated B wave (never gets
back to baseline)
ERG similar to XL retinoschisis
10. Syndromes
Craniofacial syndromes
Craniosynostosis
simple cases are sporadic, syndromes are usually AD
Ocular
ON
ALL disk swelling should be evaluated
proptosis
shallow orbits can cause severe corneal exposure
strabismus
often extortion of orbits
may have absent SO, SR
treat refractive error and amblyopia
misc
variety of other malformations noted including coloboma, cataract, medullated NFL, keratoconus, iris TI
defectsfrequently have NLD obstruction with dacryocystitis
Apert
AD but most cases are sporadic
midfacial hypoplasia, syndactyly digits 2-4
coronal suture closed
Pfeiffer
similar, shallow orbits especially, short broad thumbs and toes
Carpenter
similar, extra thumb or big toe, obesity and shallow orbits
ARCrouzons
AD with 2/3 being familial
coronal suture most commonly affected
proptosis, ON swelling more frequently
plagiocephaly
unilateral coronal or lamboidal suture
7/30/2019 Differential diagnosis in eye
47/71
ocular problems generally with the coronal closure
head assymetry best viewed by looking down
ear and orbit elevated, nasal root deviated toward the side, the forehead is flattened
vertical strabismus common with desagitilization of the trochlea
usually without ON compromise
Treacher Collins
AD with variable expression
systemic
mandibular/malar hypoplasialarge mouthhighly arched palatedeformed downward earshairline
projection to cheekblind fistulas from ear to mouthpreauricular tagsnormal intelligenceocular
downward slanting PF (antimongoloid) with lower lid colobomas
variable amount of lower lid tissue can exist
tearing from punctal and lid abnormalities
minimal ocular problems
Hemifacial microsomia
sporadic
Goldenhars syndrome is a varient
systemic
unilateral facial involvement R>Lmandible usually greatly smallermalformed earspreauricular tags/pitsV
and VII nerve palsiescervical spine abnmacrostomiaheart/lung/kidney abnocular
epibulbar dermoidslipodermoidsstrabismusDuanes syndromelacrimal duct stenosiscolobomas of upper
lids
dermoids are usually small ( 6 drinks/ day
systemic
thin vermilion border of upper lipsmental retardationlow birth wt and htcardiac and skeletal
abnormalitiesCNS abnormalitieshyperactiveocular
primary telecanthus is characteristic
most commonly horizontal short PF, ptosis, and epicanthal folds
up to 1/2 with decreased Va
tortuous vesselsmild optic nerve hypoplasia (40%)high refractive error (+ and -)long eyelashesanterior
7/30/2019 Differential diagnosis in eye
48/71
segment dysgenesis
11. Uveitis
JRA
RF-, HLA B27-
Systemic (1/4)
60% male, 1/4 with destructive arthritis
systemic fever, exanthem, pericarditis, leukocytosis
ANA -
rarely have uveitis
Polyarticular (1/3)
3 yo, 80% female, >5 joints, symmetric arthritis of small and large joints
systemic malaise, anorexia, anemia
ANA+ 25%
infrequent uveitis
Pauciarticular Type I (1/4) early onset
< 4 y.o., 80% female,
7/30/2019 Differential diagnosis in eye
49/71
watch out for iris bombe, consider LPI
filters have poor prognosis
HLA B27+
early diagnosis difficult with spondylitis late and often peripheral arthritis
ankylosing spondylitis
90% are male, after age 8
FH of JRA, Reiters syndrome, iritis, or ankylosing spondylitis
Hip, sacroilitis, and Achilles tendonitis
20% have pauciarticular lower limb inflammation
only 2% present initially with iritis
Cervical spondylitis in females
mimics adult disease with polyarthritis symmetric with wrists and fingers
ANA+ can have chronic uveitis like JRA
Psoriatric arthritis
F>M, >10 yo, FH of psoriasis
at presentation, monoarticular arthritis affecting knees changing to asymmetric polyarthritis over time
skin disease and arthritis are correlated
iritis in 10% with 80% being ANA+
arthritis presents early 3-5 yo and the skin changes late 13 yo so often with diagnosis of JRA
Juvenile Reiters, IBD
Chronic iridocyclitis in young girls
like JRA without arthritis
can happen in boys
usually more severe
Acute iritis (1/4) with older children, symmetric, deforming polyarthritis.
Pars Planitis
Similar to adult uveitis
Tends to involve the optic nerve more frequently
Strabismus
I. Basic Science
Anatomy
rectus muscles
12 mm posterior to insertion the rectus muscles penetrate posterior Tenon's capsule which fuses with
the intramuscular septum to form muscle sheath
tendon length: 4-8 mm long
muscle length: 40 mm
muscle width: 10 mm
horseshoe shaped insertion so hook them posteriorly
7/30/2019 Differential diagnosis in eye
50/71
insertion from limbus is approximately:
5.5 mm (MR) 6.5 mm (IR) 7 mm (LR) 8 mm (SR)MR
easiest to lose without attachments to obliques
tendon is only 4 mm long, therefore resection is often bloody
LR
Faden procedure ineffective since it already has long arc of contact
easiest to expose
if lost, look at the inferior oblique insertion
tendon is 9 mm long
superior oblique
SO muscle is the shortest EOM, only32 mm long, but the tendon is the longest at 20 mm
As it passes underneath the SR, it becomes attached to the SR muscle sheath
insertion is variable, but usually at the lateral border of the SR
vortex vein is located posteriorly
inferior oblique
IO tendon 1 mm
inserts almost directly over macula about 12 mm posterior to the lower LR insertion
inferotemporal vortex vein very close
nerve enters as IO passes below IR
Blood supply
30% of anterior perfusion by 2 long posterior ciliary arteries at 3 and 9 oclock
70% by 7 anterior arteries in rectus muscles
LR only rectus muscle with one anterior ciliary artery, all others have two
after surgery, anterior ciliary arteries do NOT recannulate
because there are no posterior ciliary vessels superiorly and inferiorly, iris angiograms are more
disrupted when IR or SR are operated on
iris angiograms do not predict ischemia
older patients may be more prone to ischemia
perilimbal conjunctival vessels may play a role in circulation
CN nuclei
Remember IIIrd and VIth nuclei have ipsilateral innervation, whereas the IVth nerve nucleus has
contralateral innervation
Physiology
plane of rotation is13 mm behind cornea (slightly behind the equator)
The torque exerted by a muscle on the globe is where it becomes first tangent with the eye
The MR is tangent at or anterior to the equator while the LR is tangent just posterior to the equator
1 nerve fiber: 5 muscle fibers (highest in body)
Tension
7/30/2019 Differential diagnosis in eye
51/71
resting tension is 25g
saccades generate 50g
maximum isotonic contraction is 120g
ARC and suppression
Defense against diplopia
Acquired adult strabismus have minimal sensory adaptation, whereas children generally adapt
suppression
eliminates central diplopia
small scotoma with ET
hemiretinal with XT
ARC
eliminates peripheral diplopia
test with bagolini lenses
Exam
Stereo
20-50 arc seconds equals normal bifoveal fixation
80-3000 arc seconds is peripheral fusion
must have adequate illumination to test properly
Titmus
Fly is 3000 arc seconds
animals 400-200-100 arc seconds
circles 800-400-200-140-100-80-60-50-40 arc seconds
has monocular clues
If you rotate 90 deg, lose stereo (as a check)
Randot
less false positives, more false negatives
positive testing equals high grade stereopsis
Diplopia tests
Red filter
red filter over one eye, do they see a pink/red/white fixation light or double?
prism neutralization
if sees double with prism neutralization, then patient has ARC
W4D
can test strength of fusion by darkening the room and increasing the dissociation
dots are separated by 6 degrees at 1/3 m, and 1.25 degrees at 6 m, and 12 degrees at 1/6 m
alternating suppression can be confused with diplopia
Normal phorias
adults6 M2 pd E1/3 M6 pd Xchildren6 M8 pd E1/3 M8 pd EAngle Kappa
an abnormal angle kappa is different than eccentric fixation because the fovea is still used
positive= normal, nasal
negative= abnormal, temporal
Fusional amplitudes
7/30/2019 Differential diagnosis in eye
52/71
horizontalconvergenceD 14pddivergenceD 6pdN16pdvertical2.5pdBruckner test
direct ophthalmoscope at arms length, full brightness
perform Hirschbergs, then compare brightness of red reflex
assess fixation or hypoaccomodation
asymmetric red reflexes are due to strabismus, anisometropia, anisocoria, posterior pole abn/media
opacities
II. Amblyopia
not a defense against diplopia
2% of population
with neutral density filter, the difference between the eyes diminish
crowding phenomenon
eccentric fixation can be found with dense amblyopia
Strabismic
often with refractive componant
present earlier to doctor
density of amblyopia is not correlated with time of recovery during therapy
Refractive
meridional
> +3.00
ametropic
usually >+5.00
give correct Rx
may take a long time for vision to get better--be patient
anisometropia
very common
> 1.5 D difference in hyperope, >2 D in myopes
children with better initial vision will do better
anisekonia doesn't occur with correct rx
very small incidence of ET developing while patching
Organic
often a functional componant is also present
deprivation (amblyopia ex anopsia)
media opacity such as cataract or corneal opacity
structural
eg, optic atrophy, macular scar
small APD, abnormal PERG
Occlusion
less than 10%
usually reversible with cessation of patch or brief patching of other eye
Monofixation syndrome
< 8 pd of strabismus (cover/uncover or simultaneous prism and cover) and 1/3 have no deviation
7/30/2019 Differential diagnosis in eye
53/71
alt cover > cover-uncover, prism and cover
anisometropia common
small macular scotoma (debate about ARC and suppression)
usually good binocular vision, NRC, and abnl stereoacuity (
7/30/2019 Differential diagnosis in eye
54/71
asymmetric OKN
Rx
treat amblyopia and trial of glasses if > +3.00
surgery by 18 months to achieve single binocular vision (>90%)
if surgery after 2 yo, < 1/2 have binocularity
Diff Dx
accomodative ET
Duane's T1
Mobius syndrome
neurological abnormalities
nystagmus blockage
bilateral abducens palsy
sensory ET
Nystagmus blockage
manifest congenital nystagmus dampened by convergence
eyes straighten under general anesthesia
variable angles, but nystagmus often disappears with convergence
Accomodative ET
6 months to 7 yrs, avg 2.5 yrs, +FH
starts intermittent, precipitating illness, trauma
amblyopia frequent
no diplopia since suppression or ARC
Refractive
7/30/2019 Differential diagnosis in eye
55/71
+3.00 - +10.00 D, avg +4.00
hyperopia increases till age 7, then decreases
deviation same distance and near, 20 - 30 pd
If delayed RX, may not respond
If > +5.00 D, can get bilateral ammetropic amblyopia
RX
patch amblyopia, full time Rx
repeat refraction 2 months post glasses since ciliary relaxation
if overcorrected post surgery, try over minus therapy
High AC/A
near >10pd than distance is a rough clinical measurement
usually hyperopic (+2.25 D avg, but can be myopic or +10.00)
MUST BE ACCOMODATING TO GET FULL ET
can get nonaccommodative ET
measurement
normal AC/A 4:1
Gradient method:
(ET near with +3.00 lens - ET n)/3 (dioptric distance)
Heterophoria method:
(PD (cm) + ET near - ET distance)/ D (of near)
RX:
+3.00 large flattop bifocals with the segment splitting the pupils
7/30/2019 Differential diagnosis in eye
56/71
bring target close to child and if they reflexively assume chin up posture, then they are using bifocals
Diff dx
nonaccomodative (stress, cyclic
)paralytic
sensory deprivation
divergence insufficency (ET > dist than near)
Spasm of convergence
Incomitant ET
MR restriction
thyroid, blowout, post op
forced ductions are useful guide to surgical planning
VI nerve paresis
often with head turn for fusion
common in children
Check neurological exam, trauma, CT, MRI
patch, fresnel prisms, botulinum for diplopia short term
Post XT surgery
usually improves spontaneously
RX prisms, miotics, full CRx, patch, surgery
Surgery
chances for consecutive exotropia increase with anisometropia, high hyperopia, amblyopia, or cerebral
palsy
Tables
may do symmetrical surgery of weakening MR or strengthening LR by same amount OU
7/30/2019 Differential diagnosis in eye
57/71
in adults with >45pd of esotropia, consider three or four muscle surgery to avoid limitation of ductions
Note that these are a starting point and should be continuously monitored
ET angle (pd)recess MR in mmresect LR in mm6010
recess-resect
may weaken MR and strengthen LR of same eye by reading across table
used if one eye has much better vision
not as good for large deviations
Duane's syndrome
no VI nerve nucleus
innervation of LR by III nerve
sporadic usually, but AD in 1/10
F > M, OS > OD (slightly)
usually unilateral
children rarely complain, present usually with head turn
adults complain of asthenopia, intermittant diplopia, and vague discomfort
ocular
decreased ABduction
variable loss of ADduction
upshoots and downshoots on adduction
paresis of convergence
uveal colobomas
crocodile tears
amblyopia
On ADd, PF narrows, globe retracts secondary to activation of LR
7/30/2019 Differential diagnosis in eye
58/71
systemic
spinal defects
Goldenhar syndrome
Wildervanck syndrome
deafness, Klippel Feil anomaly (web neck), and Duanes syndrome
F>>M
Types
most commonly, patients have TI Duanes with ET in primary and minimal enophthalmos/leash, good
stereo
the less ET in primary position, the greater the enophthalmos
TI: decreased ABd, straight to ET in primary, bilateral 20%
TII: XT in primary and limit ADD
TIII: decreased ABD and ADD
Mobius syndrome
VI, VII nerve palsies, abn PPRF
some can also have III, IV, V, IX, X, and XII
may have variety of motility disturbances
limitation of adduction that improves with convergence
fissure changes
vertical muscle involvement
mask like facies
sporadic, although rare AD varients have been reported
systemic
Polands anomaly (absent pectoralis muscle)
limb, chest, and tongue defects
micrognathia, small mouth, hypodontia
7/30/2019 Differential diagnosis in eye
59/71
15% have MR
Convergence Spasm
Intermittent ET, miosis, and myopia (accommodation)
Symptoms include headache, asthenopia, diplopia, photophobia
May appear to have bilateral VI th nerve palsies, but will have miosis with abduction
Functional vs organic (posterior fossa, vestibulopathy, pituitary tumors, diffuse metabolic disease, MS,
and trauma)
Baclofen has been tried in MS
IV. Exotropia
Types
PseudoXT
+ angle kappa
ROP
dragged macula
Toxacara
telecanthus
Duanes TII
incomitant
Basic
same at distance and near
Divergence excess
distance > near by 15 pd
high AC/A
check post occlusion (break fusion)
simulated excess if becomes basic with +3.00D after patching for one hour
7/30/2019 Differential diagnosis in eye
60/71
most do not become ET at near post op if straight at distance
Convergence insufficiency
near > distance by 15 pd
near point of convergence (NPC) is remote
low AC/A
blurred near vision
often only with exophoria
traumatic
often resolve within one year (up to 2/3)
remaining are difficult to treat
usually prisms, orthoptics are ineffective
Rx
pencil pushups
reading or TV with BO prism to increase convergence amplitudes
chronically, can treat with BI prism
often have significant overcorrection early on, especially with bimedial resections
a recess/resect procedure provides some incomitance so the patient can fuse without diplopia
Exophoria
NPC may be remote
asthenopia if controlled by accommodative convergence
most commonly a problem with convergence insufficiency
NOT treatable by surgery, use convergence exercises
Intermitant XT
7/30/2019 Differential diagnosis in eye
61/71
most idiopathic, +FH, F>M
usually starts around age 2 close one eye in bright sunlight
ARCV pattern
only 1/4 improve or are stable
often complain about diplopia when driving or moving
must measure with accommodative target
bilateral temporal hemiretinal suppression
progressive with decrease tonic convergence, developed suppression, decreased accommodation, and
orbital divergence with age
most are pseudo-divergence excess, so patch 45min or check with +3.00d
Rx
give full myopic Rx
minus lenses, base in prisms work for small amounts
timing of surgery is determined by how often the eye is deviated, not by how much
Constant XT
older
Adults with monocular vision loss often with sensory XT
decompensated intermittant or sensory XT
often alternate freely
rare diplopia
congenital (infantile) XT
associated with organic disease, craniofacial abnormalities, or neurological problems.
If healthy, then commonly with X patterns, DVD
rx
bilateral LR recessions or unilateral recess/resect
7/30/2019 Differential diagnosis in eye
62/71
Consecutive XT
much check adduction to see if MR has slipped
Surgery
wait until 2 1/2 to 4 year old to promote fusion
if in lateral gaze measures10 pd < straight, then decrease recession by 1mm/muscle
BLRR should aim for 10 - 20 pd of ET early on
resect/recess should aim for a few pd overcorrected early on
for long standing cases, need to release contracted conjunctiva and Tenon's
Tables
may do symmetrical surgery of weakening LR or strengthening MR of both eyes
may weaken LR and strengthen MR of same eye by reading across table
at larger angles, may prefer to do four muscle surgery with the numbers in parenthesis
XT angle (pd)recess LR in mmresect MR in mm1543205425653076357.56.54087509 (6)7 (5)6010 (7)8
(6)7011 (7.5)9 (6.5)8012 (8)10 (7)
consecutive ET
usually resolve with time
may patch, prisms, full plus glasses, phospholine iodide
rare to have persistance, especially when ductions are full
if incomitant, after a resect/recess, may require reoperation
V. Vertical Deviation
DVD
updrift of nonfixating eye especially with cover-uncover
7/30/2019 Differential diagnosis in eye
63/71
deviated eye often aBDucts and EXtorts and almost bounces back into position
asymmetrical, spontaneous or with occlusion
equal deviation in gazes
etiology unknown, almost always bilateral
Usually NO hyPOtropia when hyPERtropic eye fixates
Herring's law does NOT apply
associated with latent nystagmus, congenital ET
measure with base down prism under occluder
often becomes evident after ET surgery
natural history with resolution in 15-25%
diff dx- IO overaction, hypertropia
SO palsy
Most common cause of vertical diplopia
Longstanding palsies with contraction of IO and vertical concomitance
pay careful attention to versions for the diagnosis
when fixating with paretic eye, can mimic a SR palsy of opposite side especially in ABDuction
(inhibitional paresis of the contralateral antagonist), ptosis
Three Step Test
patient prefers head tilt to OPPosite side with chin depression to minimize diplopia
HyPERtropia IPSIlaterally with elevation on ADDuction
+ Bielschowsky test: head tilt to IPSIlateral side with increased HYPER
Do Biechowsky head tilt supine and standing. Often, acute acquired IVth nerve will have normal exam in
supine position and hyperdeviation in standing.
Cyclotorsion
often worse in downgaze
double maddox rod
7/30/2019 Differential diagnosis in eye
64/71
often less than the true tropia due to sensory adaptation
pay attention only to the net torsion between the eyes
fundus exam
gives the true cyclotropia
Congenital
long standing head tilt
amblyopia uncommon, may indicate absent SO
facial asymmetry with affected side being more full
can decompensate at later age
often with subtle complaints of intermittant diplopia, asthenopia, neck ache with reading
no torsion on Maddox rod secondary to sensory compensation
may have mild decrease in stereo
forced ductions in OR show laxity and it is loose upon inspection
Acquired
traumatic, CVA, sinusitis, tumor
complain of tilting of objects
discrete hx of onset
can measure torsion with Maddox rod
usually < 20pd of hyperopia in primary
ischemic causes usually are in older patients with 5-10 pd of hypertropia
forced ductions in OR reveal normal SO of both sides
Bilateral
uncommon, associated with trauma
V-pattern ET downgaze often with chin down posture
Double Maddox rod > 10-15 degrees excylotorsion
7/30/2019 Differential diagnosis in eye
65/71
Head tilt shows either alternating hypertropia or is reduced to very little or none
can be masked
Double elevator Palsy
chin up position
decreased elevation
hypotropia worse on upgaze
ptosis or pseudoptosis
asymmetric Bell's
IR restriction
+forced ductions, normal forced generation, normal saccades superiorly
elevator weakness
-forced ductions, decreased force generation, decreased saccades superiorly
Monocular Supranuclear palsy
Rare acquired palsy due to lesions of the high midbrain interrupting supranuclear input to SR and IO of
one eye
Looks like double elevator palsy except normal Bell's and doll's eyes maneuver for upgaze
May have convergence weakness, pupil abnormalities, and decreased downgaze
R/O myasthenia
Brown's syndrome
congenital, tenosynovitis, IO abnormalities
Decreased elevation on ADDuc
usually DEPr on ADDuc
+ forced duction
V pattern, straight in primary
bilateral in 1/10
7/30/2019 Differential diagnosis in eye
66/71
r/o IO paresis
acquired
watch and wait often resolves
trochlear bursitis
JRA
adult RA
sinusitis/surgery
blepharoplasty
mets
orbital surgery
SLE
post partum
scleroderma
primary SO overaction
there is true muscular overcontraction, so tenotomy does not produce secondary SO palsy
be careful if patients have fusion
Congenital Fibrosis Syndrome
bilateral ptosis, static external ophthalmoplegia, and downward eye deviation
often incomplete with aberrant regeneration
may be familial
CPEO
bilateral asymmetric ptosis usually before adolescence
few yrs later, symmetric PEO with sparing of downgaze
7/30/2019 Differential diagnosis in eye
67/71
early on can have exotropia with convergence insufficiency pattern
may have diplopia
may have weakness of orbicularis, slow saccades, and nystagmus
serum CK may be elevated
mitochondrial cytopathy
classic ragged red muscle fibers on trichrome stain
may have increased sensitivity to induction agents and nondepolarizing muscle relaxants
Kearns-Sayre
post pole mottled RPE and may have spicules
ERG normal or mildy decreased
systemic
arrhythmias, congestive cardiomyopathy
deafness
intracranial calcifications
growth retardation
diabetes mellitis
thyroid abnormalities
dementia
endocrine dysfunction
CSF protein
skeletal muscle weakness
ataxia
Myotonic dystrophy
AD, onset in second decade presenting with blepharospasm
7/30/2019 Differential diagnosis in eye
68/71
ocular
ptosis
orbicularis weaknesss
low saccades
ophthalmoplegia
miotic pupils
light/near dissociation
christmas tree cataracts in all
systemic
cardiac disease
dysphagia
MR
incontinence
baldness
scoliosis
testicular atrophy
Oculopharygeal dystrophy
French Canadians with ptosis and dysphagia in third and fourth decade
increased risk of aspiration, starvation
ophthalmoplegia, orbicularis and facial weakness, limb girdle muscle weakness
palatal voice
Skew Deviation
Acquired supranuclear cause of a vertical deviation
May have torsional and horizontal componants
Classically described as comitant, skew deviation may present in many ways and can look like CN palsies
7/30/2019 Differential diagnosis in eye
69/71
Other signs of brainstem involvement
small degrees of incomitance if anynormal doll's eyes and Bell's reflex
Most commonly pontine lesion, but midbrain, cerebellum, and medulla can also be affected
Misc
it is less helpful in chronic paresis where vertical deviations are more comitant
fundus torsion can help to distinguish which vertical muscles are involved
clinically, vertical rectus muscles cause minimal complaints of tilting
forced ductions may help
Top of Form
a7e9dadca5f da7
user-1357
7/30/2019 Differential diagnosis in eye
70/71
0f 9787ee451f ef f visual 238086593 0
Javascript Required
You need to enable Javascript in your browser to edit pages.
Bottom of Form
help on how to format text
HelpAboutBlogPricingPrivacyTermsSupportUpgrade
Contributions to http://eyeresident.wikispaces.com/ are licensed under aCreative Commons Attribution
Share-Alike 3.0 License.
Portions not contributed by visitors are Copyright 2013 Tangient LLC.
Home> ...
Loading...
HomeTurn Off "Getting Started"
Loading...
B est m atches f or d d f or d ouble e levator p alsy w iki
p ull, e lectrolysis, c ryo d ouble f reeze t ha