Enhanced S-cone syndrome

MONDO:0100288

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.

Also known as: enhanced S-cone syndrome, ESCS, retinoschisis with early nyctalopia

22 clinical trials for this condition and its sub-types.

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