Recognizable Patterns of Submacular Fibrosis in the Enhanced S-Cone Syndrome.

Abstract

PURPOSE\nTo highlight recognizable patterns of subretinal fibrosis in the enhanced S-cone syndrome (ESCS).\n\n\nDESIGN\nRetrospective case series.\n\n\nPARTICIPANTS\n47 patients with subretinal fibrosis identified from 101 clinically diagnosed ESCS patients, confirmed by full field-electroretinography (ERG) (35/47) and/or genetic testing (34/47).\n\n\nMETHODS\nMultimodal retinal imaging, ERG and genetic analysis.\n\n\nMAIN OUTCOME MEASURES\nPatterns of subretinal fibrosis with angiographic, optical coherence tomography, and genetic correlations.\n\n\nRESULTS\n85 eyes of 47 patients (24 males; 36 unrelated consanguineous families) had subretinal fibrosis. Mean age at presentation was 14 years. Best-corrected visual acuity ranged from 20/20 to hand motion. 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 cases. Six recurrent patterns of submacular fibrosis were noted: central unifocal nodular, circumferential unifocal nodular, multifocal nodular, arcuate, helicoid, and thick geographic. Some patients had 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.\n\n\nCONCLUSIONS\nThese 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 work-up for inflammatory cause.