Article
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia.
European journal of human genetics : EJHG - 1 Mar 2005
Kohl Susanne, Varsanyi Balazs, Antunes Gesine Abadin, Baumann Britta, Hoyng Carel B, Jägle Herbert, Rosenberg Thomas, Kellner Ulrich, Lorenz Birgit, Salati Roberto, Jurklies Bernhard, Farkas Agnes, Andreasson Sten, Weleber Richard G, Jacobson Samuel G, Rudolph Günther, Castellan Claudio, Dollfus Helene, Legius Eric, Anastasi Mario, Bitoun Pierre, Lev Dorit, Sieving Paul A, Munier Francis L, Zrenner Eberhart, Sharpe Lindsay T, Cremers Frans P M, Wissinger Bernd
Abstract excerpt
Achromatopsia is a congenital, autosomal recessively inherited disorder characterized by a lack of color discrimination, low visual acuity (<0.2), photophobia, and nystagmus. Mutations in the genes for CNGA3, CNGB3, and GNAT2 have been associated with this disorder. Here, we analyzed the spectrum and prevalence of CNGB3 gene mutations in a cohort of 341 independent patients with achromatopsia. In 163 patients,...
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