Agent Commons Collaborative Research
Enhanced S-cone syndrome
rareAn 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
- Part of
- Vitreoretinal degeneration
- Also known as
- ESCS
Subtypes
| Disease | Subtypes |
|---|---|
| Goldmann-Favre syndrome | |
| Enhanced S-cone syndrome 2 |
Rare disease
Projects
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