Purpose: To highlight recognizable patterns of subretinal fibrosis in enhanced S-cone syndrome (ESCS).
Design: Retrospective case series.
Participants: Forty-seven patients with subretinal fibrosis identified from 101 patients with clinically diagnosed ESCS, confirmed by full-field electroretinography (35/47), genetic testing (34/47), or both.
Methods: Multimodal retinal imaging, electroretinography, and genetic analysis.
Main outcome measures: Patterns of subretinal fibrosis with angiographic, OCT, and genetic correlations.
Results: Eighty-five eyes of 47 patients (24 male patients; 36 unrelated consanguineous families) had subretinal fibrosis. Mean age at presentation was 14 years. Best-corrected visual acuity ranged from 20/20 to hand movements. All 34 genetically tested patients were homozygous for pathogenic NR2E3 variants. Subretinal fibrosis was always in the macular area, although it extended beyond in some patients. Six recurrent patterns of submacular fibrosis were noted: central unifocal nodular, circumferential unifocal nodular, multifocal nodular, arcuate, helicoid, and thick geographic. Some patients showed a combination of patterns. Previous misdiagnosis as inflammatory disease was common. Fibrosis was fairly symmetrical in a given patient but not always present or identical in other affected individuals with a given homozygous mutation from the same or other families.
Conclusions: These recognizable patterns of submacular fibrosis are part of the ESCS phenotypic spectrum and strongly suggest the disease. In addition to facilitating diagnosis, recognition of these patterns can spare patients unnecessary workup for an inflammatory cause.
Keywords: Autosomal recessive NR2E3; Enhanced S-cone syndrome; Goldmann-Favre syndrome; Subretinal fibrosis.
Copyright © 2021 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.