Purpose:
PURPOSE: Enhanced s-cone syndrome (ESCS) and Goldmann-Favre syndrome (GFS) represent milder and severe degrees, respectively, of a retinal degeneration characterized by nyctalopia, characteristic deep clumped pigmentary deposition around the vascular arcades or deep coarse near-peripheral retinal pigment epithelial disturbances, varying degrees of retinoschisis, and pathognomonic electroretinogram (ERG) findings (an undetectable rod-specific ERG, a similar, simplified and delayed ERG waveform response to flashes under photopic and scotopic conditions and a delayed 30-Hz flicker ERG amplitude lower than that of the photopic a-wave). The phenotype is often caused by recessive mutations in NR2E3. We have observed submacular fibrosis as a rare but recurrent feature of ESCS/GFS. In this study we characterize the patterns of submacular fibrosis in ESCS/GFS and report results of NR2E3 analysis.
Methods:
Retrospective case series of Saudi patients with: (1) clinical ESCS/GFS; (2) confirmation by ERG testing; and (3) macular subretinal fibrosis.
Results:
Fifteen patients (7 male, 8 female, 10 families) were 5 to 28 years old and had best-corrected visual acuity ranging from 20/30 to 20/400. Subretinal fibrosis occurred primarily in the macula, with a preferential location for the macular borders. In some eyes the fibrosis extended nasally around the optic disc. A faint halo of RPE atrophy often surrounded the fibrotic lesions. No eye exhibited current or prior evidence of chorioretinal inflammation or subretinal neovascularization. The patterns of subretinal fibrosis were a) single white nodular fibrosis (7 eyes); b) multifocal nodular fibrosis distributed around the macular edge (2 eyes); c) geographic thin fibrosis (4 eyes); d) thick gray-white, continuous or interrupted arcuate or helicoidal fibrosis (10 eyes), and e) thick gray-white broad geographic fibrosis (6 eyes). A combination of patterns existed in some eyes. The pattern was fairly symmetrical in a given patient but not always the same in other affected members from the same family. Seven of the 10 families had pathogenic NR2E3 mutations. None of these mutations were specific for a particular pattern of fibrosis.
Conclusions:
Recognizable patterns of macular subretinal fibrosis are part of the enhanced S-cone syndrome and Goldmann-Favre syndrome phenotypic spectrum and should raise suspicion for the diagnosis.
Keywords: retinal degenerations: hereditary • macula/fovea • genetics