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Case Reports
. 2026 Jan 1;20(1):96-101.
doi: 10.1097/ICB.0000000000001674.

NR2E3-ASSOCIATED RETINOPATHY PRESENTING WITH BILATERAL CHOROIDAL NEOVASCULARIZATION

Christopher Sun  1   2 , Tien-En Tan  1   2   3 , Yasmin Bylstra  4 , Nathalie P Y Chiam  1   2 , Ranjana S Mathur  1   2   4 , Choi Mun Chan  1   2   4 , Li Yu Chen  1   2 , Joey S Z Poh  1   2 , Rachael W C Tang  1   2 , Chui Ming Gemmy Cheung  1   2   3 , Beau J Fenner  1   2   3
Affiliations
Case Reports

NR2E3-ASSOCIATED RETINOPATHY PRESENTING WITH BILATERAL CHOROIDAL NEOVASCULARIZATION

Christopher Sun et al. Retin Cases Brief Rep. .

Abstract

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

Methods: Case report. The patient underwent a thorough ophthalmic examination and investigations such as color 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 girl with no known family history of retinal disease or nyctalopia presented with bilateral reduced visual acuity (20/100 right eye, 20/200 left eye). 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 years, were asymptomatic but were also hyperopic and had intraretinal schisis and focal loss or attenuation of the ellipsoid zone on optical coherence tomography. 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, and 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.

Keywords: NR2E3-associated retinopathy; choroidal neovascularization; enhanced S-cone syndrome; inherited retinal disease; nyctalopia.

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Conflict of interest statement

None of the authors have any conflicts of interest to disclose.

References

    1. de Carvalho ER, Robson AG, Arno G, et al. Enhanced S-cone syndrome: spectrum of clinical, imaging, electrophysiologic, and genetic findings in a retrospective case series of 56 patients. Ophthalmol Retina 2021;5:195–214.
    1. Nowilaty SR, Alsalamah AK, Magliyah MS, et al. Incidence and natural history of retinochoroidal neovascularization in enhanced S-cone syndrome. Am J Ophthalmol 2021;222:174–184.
    1. Yzer S, Barbazetto I, Allikmets R, et al. Expanded clinical spectrum of enhanced S-cone syndrome. JAMA Ophthalmol 2013;131:1324–1330.
    1. Jacobson SG, Sumaroka A, Aleman TS, et al. Nuclear receptor NR2E3 gene mutations distort human retinal laminar architecture and cause an unusual degeneration. Hum Mol Genet 2004;13:1893–1902.
    1. Mustafi D, Kevany BM, Genoud C, et al. Defective photoreceptor phagocytosis in a mouse model of enhanced S-cone syndrome causes progressive retinal degeneration. FASEB J 2011;25:3157–3176.

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