KCNV2

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KCNV2 is a human gene that makes a part of voltage‑gated potassium channels in the retina. This channel helps photoreceptors (the cells in the eye that detect light) send proper signals.

When someone has two faulty copies of KCNV2, they develop KCNV2 retinopathy, a rare inherited eye disorder. It was historically called cone dystrophy with supernormal rod electroretinogram (ERG).

Symptoms typically appear in childhood and include reduced sharpness of vision, sensitivity to light (photophobia), and trouble with color vision. Central vision can gradually worsen, while night vision may be relatively preserved in the early stages.

A key diagnostic sign is the characteristic ERG pattern: scotopic (rod) responses may show unusually large b-waves at higher light intensities, while photopic (cone) responses are delayed and reduced.

Cause: mutations in KCNV2 disrupt normal signaling in photoreceptors, leading to cone dysfunction and abnormal rod responses. The condition is inherited in an autosomal recessive manner.