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Abstract
We examined the incidence and natural history of macular retinochoroidal neovascularization (RCN) in enhanced S-cone syndrome (ESCS). Retrospective case series. This single-center study included 14 of 93 patients with ESCS who had signs of active or inactive RCN in ≥1 eye. We conducted multimodal retinal imaging, full-field electroretinography, and molecular genetic analysis of NR2E3 gene. Our main outcome measures included the cumulative incidence of RCN in ESCS, type of RCN, and mode of evolution of RCN. Fourteen (15.1%) of 93 patients with ESCS had RCN in ≥1 eye at 2 to 27 years of age. All 22 RCNs (21 eyes of 14 patients) were macular. Twelve of the RCNs were active with exudates/hemorrhages. Of these, 5 appeared de novo in a subretinal location, with photographic evidence of no pre-existing lesions. The latter were compatible with type 3 neovascularization or retinal angiomatous proliferation and subsequently evolved into unifocal fibrotic nodules. The remaining active lesions all had some degree of pre-existing fibrosis and remained stable. Ten inactive fibrotic nodules, identical to end-stage de novo lesions, were found and were presumed to represent healed RCNs. RCN, a treatable condition, may occur as early as 2 years of age and may be much more common in patients with ESCS than previously estimated. It may be the primary cause of the unifocal submacular fibrosis that is commonly observed in this condition. Additional research is needed to establish the pathogenesis of RCN in patients with ESCS and its optimal management.
Highlights
It is conceivable that retinochoroidal neovascularization (RCN) is an inherent feature of E NHANCED S-CONE SYNDROME (ESCS) and a potential precursor of a subsequent fibrosis
The various presentations of RCN—active, newly developing de novo lesions, evolving lesions with some fibrotic features, and inactive already fibrosed lesions—do not exclude that there is a primary RCN that leads to a subsequent subretinal fibrosis, which in turn could trigger, or contribute to, further RCN, leading to further fibrosis
We showed that RCN lesions 1) are almost always located in the central macula; 2) are observed in patients as young as 2 years of age; 3) can present de novo as exudative retinal angiomatous proliferation (RAP)-like lesion that evolve into the characteristic unifocal subretinal fibrotic lesions seen in ESCS
Summary
We examined the incidence and natural history of macular retinochoroidal neovascularization (RCN) in enhanced S-cone syndrome (ESCS). 5 appeared de novo in a subretinal location, with photographic evidence of no pre-existing lesions The latter were compatible with type 3 neovascularization or retinal angiomatous proliferation and subsequently evolved into unifocal fibrotic nodules. Identical to end-stage de novo lesions, were found and were presumed to represent healed RCNs. CONCLUSIONS: RCN, a treatable condition, may occur as early as 2 years of age and may be much more common in patients with ESCS than previously estimated. CONCLUSIONS: RCN, a treatable condition, may occur as early as 2 years of age and may be much more common in patients with ESCS than previously estimated It may be the primary cause of the unifocal submacular fibrosis that is commonly observed in this condition.
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