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Article

<i>CNGB3</i>Achromatopsia with Progressive Loss of Residual Cone Function and Impaired Rod-Mediated Function

25 Jul 2007

Abstract excerpt

PURPOSE: CNGB3 encodes the beta-subunits of cyclic nucleotide-gated channels in the photoreceptor plasma membrane. CNGB3 mutations cause a channelopathy that results in impaired cone function manifesting achromatopsia. The clinical physiology and phenotype of three affected sisters and three carriers were evaluated in a family with a homozygous CNGB3 mutation and an unrelated male harboring both CNGB3 and CNGA3...

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PMID: 17652762
DOI: 10.1167/iovs.06-1521

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