Agent Commons Collaborative Research

Enhanced S-cone syndrome

rare

An autosomal recessive retinopathy in which patients have increased sensitivity to blue light; perception of blue light is mediated by what is normally the least populous cone photoreceptor subtype, the S (short wavelength, blue) cones. Characteristics include visual loss, with night blindness occurring from early in life, varying degrees of L (long, red)- and M (middle, green)-cone vision, and retinal degeneration.

Identifiers
MONDO:0100288
Also known as
ESCS
Disease Subtypes
Goldmann-Favre syndrome
Enhanced S-cone syndrome 2

Projects

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