Incidence and Natural History of Retinochoroidal Neovascularization in Enhanced S-Cone Syndrome

ObjectiveWe examined the incidence and natural history of macular retinochoroidal neovascularization (RCN) in enhanced S-cone syndrome (ESCS).DesignRetrospective case series.MethodsThis single-center study included 14 93 patients with ESCS who had signs active or inactive RCN ≥1 eye. We conducted multimodal retinal imaging, full-field electroretinography, molecular genetic analysis NR2E3 gene. Our main outcome measures cumulative ESCS, type RCN, mode evolution RCN.ResultsFourteen (15.1%) eye at 2 to 27 years age. All 22 RCNs (21 eyes patients) were macular. Twelve exudates/hemorrhages. Of these, 5 appeared de novo a subretinal location, photographic evidence no pre-existing lesions. The latter compatible 3 angiomatous proliferation subsequently evolved into unifocal fibrotic nodules. remaining lesions all some degree fibrosis remained stable. Ten nodules, identical end-stage lesions, found presumed represent healed RCNs.ConclusionsRCN, treatable condition, may occur as early age be much more common than previously estimated. It primary cause submacular that is commonly observed this condition. Additional research needed establish pathogenesis its optimal management. (ESCS). Retrospective series. This RCN. Fourteen RCNs.