JOURNAL REVIEWED: Ophthalmic Genetics - until March 2014 | Acta Ophtalmolgica | Eye
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Molecular genetics of achromatopsia
Achromatopsia is a rare autosomal recessive disorder of the cone photoreceptors. Typical characteristics of affected patients include the inability to distinguish colours, impaired visual acuity, photophobia and nystagmus. The condition is said to be more frequent in the Pingelapese population...