ACHM2
Achromatopsia, also known as rod monochromacy, is a medical syndrome that exhibits symptoms relating to five conditions, most notably monochromacy. Historically, the name referred to monochromacy in general, but now typically refers only to an autosomal recessive congenital color blindness, color vision condition. The term is also used to describe cerebral achromatopsia, though monochromacy is usually the only common symptom. The conditions include: monochromacy, monochromatic color blindness, poor visual acuity, and hemeralopia, day-blindness. The syndrome is also present in an ''incomplete'' form that exhibits milder symptoms, including residual color vision. Achromatopsia is estimated to affect 1 in 30,000 live births worldwide. Signs and symptoms The five symptoms associated with achromatopsia are: # Color blindness – usually monochromacy # Reduced visual acuity – uncorrectable with lenses # Hemeralopia – with the subject exhibiting photophobia # Pathologic nystagm ...
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