Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Leber congenital amaurosis 06

Leber congenital amaurosis 6 is an autosomal recessive disorder caused by mutations of the RPGRIP1 gene.

Systematic

Leber congenital amaurosis
Leber congenital amaurosis 01
Leber congenital amaurosis 02
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Leber congenital amaurosis 05
Leber congenital amaurosis 06
RPGRIP1
Leber congenital amaurosis 07
Leber congenital amaurosis 08
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Leber congenital amaurosis 12
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Leber congenital amaurosis 14
Leber congenital amaurosis 15
Leber congenital amaurosis 16
Leber congenital amaurosis 17
Leber congenital amaurosis 18

References:

1.

Khan AO et al. (2014) Genetic analysis of strictly defined Leber congenital amaurosis with (and without) neurodevelopmental delay.

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2.

Dryja TP et al. (2001) Null RPGRIP1 alleles in patients with Leber congenital amaurosis.

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3.

Gerber S et al. (2001) Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis.

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4.

Chung DC et al. (2009) Leber congenital amaurosis: clinical correlations with genotypes, gene therapy trials update, and future directions.

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5.

Pawlyk BS et al. (2005) Gene replacement therapy rescues photoreceptor degeneration in a murine model of Leber congenital amaurosis lacking RPGRIP.

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6.

OMIM.ORG article

Omim 613826 [^]
Update: April 29, 2019