Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Leber congenital amaurosis 08

Leber congenital amaurosis 8 is an autosomal recessive disorder caused by mutations of the CRB1 gene.

Systematic

Leber congenital amaurosis
Leber congenital amaurosis 01
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Leber congenital amaurosis 05
Leber congenital amaurosis 06
Leber congenital amaurosis 07
Leber congenital amaurosis 08
CRB1
Leber congenital amaurosis 09
Leber congenital amaurosis 10
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Leber congenital amaurosis 17
Leber congenital amaurosis 18

References:

1.

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 [^]
Update: April 29, 2019