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NR2E3-ASSOCIATED RETINOPATHY PRESENTING WITH BILATERAL CHOROIDAL NEOVASCULARIZATION
Christopher Sun1,2, Tien-En Tan1,2,3, Yasmin Bylstra4
1Singapore National Eye Centre, Singapore.
Retinal Cases & Brief Reports
|January 9, 2025
Summary
Enhanced S-cone syndrome (ESCS) can present with atypical symptoms like choroidal neovascularization (CNV). Early diagnosis and treatment, including anti-VEGF therapy, are crucial for managing this rare retinal condition.
Area of Science:
- Ophthalmology
- Genetics
- Retinal Diseases
Background:
- Enhanced S-cone syndrome (ESCS) is a rare genetic disorder affecting photoreceptor function.
- It is characterized by an abnormal sensitivity of S-cones to light stimuli.
- Atypical presentations, such as choroidal neovascularization (CNV), are not well-documented.
Purpose of the Study:
- To describe an unusual case of ESCS in an 11-year-old female.
- To highlight the occurrence of bilateral choroidal neovascularization (CNV) in this patient.
- To discuss the diagnostic and therapeutic approaches for such presentations.
Main Methods:
- A comprehensive ophthalmic examination was performed, including imaging (OCT, fundus photography, angiography) and electroretinography.
- Genetic testing identified biallelic NR2E3 variants.
- The patient received intravitreal anti-VEGF injections for secondary CNV.
Main Results:
- The patient presented with reduced visual acuity and bilateral macular CNV.
- Genetic analysis confirmed ESCS with NR2E3 variants.
- Treatment with anti-VEGF improved visual acuity in one eye, while the other showed persistent scarring.
Conclusions:
- Bilateral CNV can be an atypical manifestation of ESCS in young patients.
- This case underscores the importance of screening for CNV in ESCS patients.
- Family screening and regular follow-up are essential for relatives of affected individuals.
