NR2E3-Associated Retinopathy Presenting with Bilateral Choroidal Neovascularization

Abstract

Purpose: We describe an atypical presentation of an 11-year-old female with enhanced S-cone syndrome (ESCS).

Methods: Case report. The patient underwent a thorough ophthalmic examination and investigations such as colour fundus photography, optical coherence tomography, fundus autofluorescence, fluorescein and indocyanine angiography, an electroretinogram and genetic testing. After determining the presence of secondary choroidal neovascularization, we treated her with intravitreal Ranibizumab injections. We present her progress and a brief literature review about ESCS.

Results: An 11-year-old hyperopic female with no known family history of retinal disease or nyctalopia presented with bilateral reduced visual acuity (20/100 OD, 20/200 OS). Examination disclosed bilateral macular choroid neovascularization (CNV) with retinochoroidal anastomosis on the left eye, bilateral nummular deposits at the superior macular arcades. All three of her siblings, aged 7-14, were asymptomatic but were also hyperopic and had intraretinal schisis and focal loss or attenuation of the ellipsoid zone on optical coherence tomography (OCT). Electrophysiology showed a reduced scotopic response and a dramatically enhanced response to full field blue light stimuli meant to elicit a response primarily from S-cones. Genetic testing confirmed the presence of biallelic NR2E3 variants. Treatment with monthly intravitreal anti-VEGF resulted in improved visual acuity of 20/30 on the right eye, while the left eye had a persistent nodular scar and visual acuity remained at 20/200.

Conclusion: We describe a case of bilateral CNV in a young patient with enhanced S-cone syndrome, discuss differentials and treatment approaches. This case highlights the risk of CNV in ESCS and the importance of family screening and follow-up in affected relatives.