Article
Causes and consequences of inherited cone disorders.
Progress in retinal and eye research - 1 Sept 2014
Roosing Susanne, Thiadens Alberta A H J, Hoyng Carel B, Klaver Caroline C W, den Hollander Anneke I, Cremers Frans P M
Abstract excerpt
Hereditary cone disorders (CDs) are characterized by defects of the cone photoreceptors or retinal pigment epithelium underlying the macula, and include achromatopsia (ACHM), cone dystrophy (COD), cone-rod dystrophy (CRD), color vision impairment, Stargardt disease (STGD) and other maculopathies. Forty-two genes have been implicated in non-syndromic inherited CDs. Mutations in the 5 genes implicated in ACHM...
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