CASE REPORT

Ocular coherence tomography findings in a caseof choroideremia

Savleen Kaur • Nishant Sachdev

Received: 7 December 2012 / Accepted: 18 March 2013 / Published online: 29 March 2013

� Springer Science+Business Media Dordrecht 2013

Introduction

Choroideremia is an X-linked progressive chorioret-

inal dystrophy [1]. It usually affects males who

develop early-onset night blindness, restriction of the

peripheral visual field, and a decrease in central visual

acuity, leading to blindness in the advanced stages of

the disease. Fundus examination shows a progressive

atrophy of the choroid and retinal pigment epithelium.

Spectral-domain optical coherence tomography

(SD-OCT) is the latest modality for the morphological

analysis of the retinal layers. Due to the paucity of data

on the OCT analysis of choroideremia (method of

search: pubmed) we decided to carry out a similar

study in our patient.

Case report

A 22-year-old old male presented to our out-patient

department with a history of nyctalopia and decreased

central vision. Visual fields demonstrated variable

peripheral field restriction, and due to the character-

istic fundus findings (including choroidal and retinal

pigment epithelium degenerative changes throughout

the posterior pole and mid-peripheral retina) a diag-

nosis of choroideremia was made (Fig. 1, 2).

SD-OCT revealed increased retinal thickening

(mean retinal thickness 420 lm) and cystic spaces in

the retina in both eyes (Fig. 3). The cystic spaces

ranged from small cysts in the outer plexiform layer to

huge cysts confirming cystoid macular edema (CME).

Clinical examination failed to detect cystic spaces.

Discussion

Earlier reports of choroideremia revealed a positive

correlation between retinal thickness and choriocap-

illaris preservation and advanced stages being marked

by chorioretinal atrophy [2]. Another study revealed

subtle retinal pigment epithelium irregularities with

attenuation more pronounced outside the macular

region on OCT [3].

The presence of cystic macular changes of variable

degrees on SD-OCT with an overall prevalence of

62.5 % in at least one eye and 50 % in both eyes was

first reported in 2011 [4]. Cystic changes ranging from

microcysts to diffuse macular edema along with

rosette-like structures were found in some patients.

The authors were unable to find any previous reports

of choroideremia (Fig. 3).

S. Kaur � N. Sachdev

PGIMER, Chandigarh, Punjab, India

S. Kaur (&)

47 Shakti Nagar, Jalandhar 144001, Punjab, India

e-mail: mailsavleen@gmail.com

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Int Ophthalmol (2014) 34:297–299

DOI 10.1007/s10792-013-9767-x

Although previous studies were performed using

time-domain OCT testing on choroideremia patients

and carriers, these noted the presence of retinal

thickening but did not show any evidence of CME

[2, 5].

We similarly observed that the central foveal

thickness in our patients was thicker and wondered

why CME occurred in choroideremia It could be due

to the macular edema itself indicating a breach in the

blood–retinal barrier or it may be related to retinal

gliosis as has been previously described by MacDon-

ald et al. [6].

The use of high-speed, high-resolution tools such as

SD-OCT may be useful to measure macular thickness

in patients suspected of having choroideremia. As

there is only one similar study commenting on CME in

choroideremia [4], we need to increase the awareness

regarding the high likelihood of finding CME in such

patients. We support the fact that once we discover

CME in such patients, we can aim at decreasing

macular edema in these patients by pharmacological

therapy and thus potentially increase their vision.

During patient selection, SD-OCT should be consid-

ered for diagnosing and monitoring patients with

choroideremia in future therapeutic trials. At the same

time we can screen patients who might benefit from

treatment.

Fig. 2 a, b Peripheral pigmentary changes well demonstrated

in the inferior fundus with variable areas of patchy chorioretinal

atrophy

Fig. 1 Fundus photograph of the posterior pole of the patient in

Fig. 3

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References

1. McCulloch C, McCulloch RJP (1948) A hereditary and

clinical study of choroideremia. Trans Am Acad Ophthalmol

Otolaryngol 52:160–190

2. Jacobson SG, Cideciyan AV, Sumaroka A et al (2006) Remod-

eling of the human retina in choroideremia: rab escort protein 1

(REP-1) mutations. Invest Ophthalmol Vis Sci 47(9):4113–4120

3. Thobani A, Anastasakis A, Fishman GA (2010) Microperi-

metry and OCT findings in female carriers of choroideremia.

Ophthalmic Genet 31(4):235–239

4. Genead MA, Fishman GA (2011) Cystic macular oedema on

spectral-domain optical coherence tomography in choroi-

deremia patients without cystic changes on fundus exami-

nation. Eye 25(1):84–90

5. Mura M, Sereda C, Jablonski MM (2007) Clinical and

functional findings in choroideremia due to complete deletion

of the CHM gene. Arch Ophthalmol 125(8):1107–1113

6. MacDonald IM, Russell L, Chan CC (2009) Choroideremia:

new findings from ocular pathology and review of recent

literature. Surv Ophthalmol 54(3):401–407

Fig. 3 SD-OCT of a young male patient diagnosed with choroideremia revealing the location of the macular cysts which were mostly

at the level of the outer retinal layers in the outer plexiform and the inner nuclear layers

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