Views 210
Citations 0
Ophthalmic Images
June 11, 2015

Enhanced S-Cone Syndrome and Macular Hole

Author Affiliations
  • 1Retina Division, Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland
  • 2Vitreoretinal Division, King Khaled Eye Specialist Hospital, Riyadh, Kingdom of Saudi Arabia

Copyright 2015 American Medical Association. All Rights Reserved. Applicable FARS/DFARS Restrictions Apply to Government Use.

JAMA Ophthalmol. 2015;133(6):e15108. doi:10.1001/jamaophthalmol.2015.108

A woman in her 20s presented with decreased vision in both eyes since childhood. Best-corrected visual acuity was 20/300 OD and 20/60 OS. Fundi in both eyes had changes of the retinal pigment epithelium with subretinal gliosis.1 The right eye had a full-thickness macular hole with subretinal fluid (Figure). Fluorescein angiography revealed hyperfluorescent and hypofluorescent areas that corresponded to retinal pigment epithelium changes in both eyes. Electroretinography revealed a subnormal scotopic and photopic response, an extinct rod photoreceptor response, and hypersensitivity to shorter wavelengths. A diagnosis of enhanced S-cone syndrome was made based on electroretinographic and clinical findings. The results of an NR2E3 mutation test were negative.

First Page Preview View Large
First page PDF preview
First page PDF preview