Enhanced S-Cone Syndrome [Supplementary Concept]
An autosomal recessive retinopathy in which patients have increased sensitivity to blue light due to an increase in the number of CONE PHOTORECEPTORS for short wavelength light. Affected individuals experience visual loss, with early onset NIGHT BLINDNESS, varying degrees of L (long, red)- and M (middle, green)-cone vision, and minimal to severe retinal degeneration. Goldmann-Favre syndrome is the severe form of retinal degeneration. Mutations in the NR2E3 gene have been identified. OMIM: 268100
Date introduced: November 5, 2012
MeSH Unique ID: C564835
Heading Mapped to:
Entry Terms:
- Goldmann-Favre Syndrome
- Favre Hyaloideoretinal Degeneration
- Retinoschisis with Early Hemeralopia