[Achromatopsia].

Abstract excerpt

Hereditary cone diseases manifest as progressive or stationary disorders. Among the stationary cone disorders autosomal recessive achromatopsia occurs most frequently and begins within the first months of life with nystagmus and photophobia. Color discrimination is not possible, and visual acuity is severely reduced. In addition to a thorough ophthalmic examination, color vision tests and electrophysiology are...

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• Share to Chromosomes, Human, X
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