Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Leber congenital amaurosis 8 is an autosomal recessive disorder caused by mutations of the CRB1 gene.
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Hanein S et al. (2004) Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis. 
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| 2. |
Lotery AJ et al. (2001) Mutations in the CRB1 gene cause Leber congenital amaurosis.
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| 3. |
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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| 4. |
Abouzeid H et al. (2006) A G1103R mutation in CRB1 is co-inherited with high hyperopia and Leber congenital amaurosis.
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| 5. |
Chung DC et al. (2009) Leber congenital amaurosis: clinical correlations with genotypes, gene therapy trials update, and future directions.
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| 6. |
OMIM.ORG article Omim 613835
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