Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Lebersche kongenitale Amaurose 08

Lebersche kongenitale Amaurose 8 ist eine autosomal rezessive Erkrankung, die auf Mutationen des CRB1-Gens beruht.

Gliederung

Lebersche kongenitale Amaurose
Lebersche kongenitale Amaurose 01
Lebersche kongenitale Amaurose 02
Lebersche kongenitale Amaurose 03
Lebersche kongenitale Amaurose 04
Lebersche kongenitale Amaurose 05
Lebersche kongenitale Amaurose 06
Lebersche kongenitale Amaurose 07
Lebersche kongenitale Amaurose 08
CRB1
Lebersche kongenitale Amaurose 09
Lebersche kongenitale Amaurose 10
Lebersche kongenitale Amaurose 11
Lebersche kongenitale Amaurose 12
Lebersche kongenitale Amaurose 13
Lebersche kongenitale Amaurose 14
Lebersche kongenitale Amaurose 15
Lebersche kongenitale Amaurose 16
Lebersche kongenitale Amaurose 17
Lebersche kongenitale Amaurose 18

Referenzen:

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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