Article
CRB1 heterozygotes with regional retinal dysfunction: implications for genetic testing of leber congenital amaurosis.
Investigative ophthalmology & visual science - 1 Sept 2006
Yzer Suzanne, Fishman Gerald A, Racine Julie, Al-Zuhaibi Sana, Chakor Hadi, Dorfman Allison, Szlyk Janet, Lachapelle Pierre, van den Born L Ingeborgh, Allikmets Rando, Lopez Irma, Cremers Frans P M, Koenekoop Robert K
Abstract excerpt
PURPOSE: To test human CRB1 heterozygotes for possible clinical or functional retinal changes and to evaluate whether a patient with Leber congenital amaurosis (LCA) with CRB1 mutations not consistent with previously described CRB1 phenotypes carried a modifier allele in another LCA gene. METHODS: Seven unrelated heterozygous carriers of CRB1 mutations underwent phenotyping by full eye examinations (indirect...
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