The Retina Reference

Congenital Achromatopsia

Congenital achromatopsia is a rare disease caused by one of several known genetic mutations in which the cones are dysfunctional and reduced in number or missing from the macula. The condition is present from birth and tends to be static, in contrast to progressive cone dystrophy with which it is often confused. Patients with congenital achromatopsia have color blindness, reduced visual acuity, and an aversion to light.

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