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A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene.

ABSTRACT: Retinal cone photoreceptors mediate fine visual acuity, daylight vision, and color vision. Congenital hereditary conditions in which there is a lack of cone function in humans cause achromatopsia, an autosomal recessive trait, characterized by low vision, photophobia, and lack of color discrimination. Herein we report the identification of mutations in the PDE6C gene encoding the catalytic subunit of the cone photoreceptor phosphodiesterase as a cause of autosomal recessive achromatopsia. Moreover, we show that the spontaneous mouse mutant cpfl1 that features a lack of cone function and rapid degeneration of the cone photoreceptors represents a homologous mouse model for PDE6C associated achromatopsia.

SUBMITTER: Chang B

PROVIDER: S-EPMC2780790 | biostudies-literature | 2009 Nov

REPOSITORIES: biostudies-literature

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A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene.

Chang Bo B Grau Tanja T Dangel Susann S Hurd Ron R Jurklies Bernhard B Sener E Cumhur EC Andreasson Sten S Dollfus Helene H Baumann Britta B Bolz Sylvia S Artemyev Nikolai N Kohl Susanne S Heckenlively John J Wissinger Bernd B

Proceedings of the National Academy of Sciences of the United States of America 20091103 46

Retinal cone photoreceptors mediate fine visual acuity, daylight vision, and color vision. Congenital hereditary conditions in which there is a lack of cone function in humans cause achromatopsia, an autosomal recessive trait, characterized by low vision, photophobia, and lack of color discrimination. Herein we report the identification of mutations in the PDE6C gene encoding the catalytic subunit of the cone photoreceptor phosphodiesterase as a cause of autosomal recessive achromatopsia. Moreov ...[more]

PMID: 19887631

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