A case of choroidal neovascular membrane in Enhanced S-Cone Syndrome treated with Aflibercept

Purpose: Enhanced S-Cone Syndrome (ESCS) is a rare genetic disorder caused by a mutation in the NR2E3 genet that presents with night blindness, cystoid macular edema, subretinal fibrosis characteristic electroretinogram changes, and in a subset of patients choroidal neovascular membranes. Methods: A retrospective chart review was conducted of a single case presentation. Results: An 18-year-old male presented with a 6 day decline in left eye vision. Ancillary testing revealed foveomacular schisis in the right eye and an active CNV in the left eye. Further testing confirmed a diagnosis of ESCS. Treatment with intravitreal aflibercept injections resulted in regression of CNV and improvement in visual acuity. Conclusion: Intravitreal aflibercept demonstrates to be a successful therapy in patients presenting with CNV secondary to ESCS.