Lebersche kongenitale Amaurose 8 ist eine autosomal rezessive Erkrankung, die auf Mutationen des CRB1-Gens beruht.
2. |
Lotery AJ et al. (2001) Mutations in the CRB1 gene cause Leber congenital amaurosis. |
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den Hollander AI et al. (2001) Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene. |
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Abouzeid H et al. (2006) A G1103R mutation in CRB1 is co-inherited with high hyperopia and Leber congenital amaurosis. |
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Chung DC et al. (2009) Leber congenital amaurosis: clinical correlations with genotypes, gene therapy trials update, and future directions. |
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OMIM.ORG article Omim 613835 |