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.
Arevalo JF, Kozak I. Enhanced S-Cone Syndrome and Macular Hole. JAMA Ophthalmol. 2015;133(6):e15108. doi:10.1001/jamaophthalmol.2015.108