MeSH Browser

MeSH Supplementary: Enhanced S-Cone Syndrome
Unique ID: C564835
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C564835
Entry Term(s): Favre Hyaloideoretinal Degeneration; Goldmann-Favre Syndrome; Retinoschisis with Early Hemeralopia
Registry Numbers: 0
Heading Mapped to: *Retinal Degeneration; *Vision Disorders; *Eye Diseases, Hereditary
Frequency: 59
Note: 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 of Entry: 2012/11/05
Revision Date: 2015/08/18

Enhanced S-Cone Syndrome MeSH Supplementary Concept Data 2025