Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Leber congenital amaurosis 14

Leber congenital amaurosis 14 is an autosomal recessive disorder caused by mutations of the LRAT gene.

Systematic

Leber congenital amaurosis
Leber congenital amaurosis 01
Leber congenital amaurosis 02
Leber congenital amaurosis 03
Leber congenital amaurosis 04
Leber congenital amaurosis 05
Leber congenital amaurosis 06
Leber congenital amaurosis 07
Leber congenital amaurosis 08
Leber congenital amaurosis 09
Leber congenital amaurosis 10
Leber congenital amaurosis 11
Leber congenital amaurosis 12
Leber congenital amaurosis 13
Leber congenital amaurosis 14
LRAT
Leber congenital amaurosis 15
Leber congenital amaurosis 16
Leber congenital amaurosis 17
Leber congenital amaurosis 18

References:

1.

Gu SM et al. (1997) Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy.

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2.

den Hollander AI et al. (2007) Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays.

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3.

Thompson DA et al. (2001) Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy.

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4.

Sénéchal A et al. (2006) Screening genes of the retinoid metabolism: novel LRAT mutation in leber congenital amaurosis.

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5.

OMIM.ORG article

Omim 613341 [^]
Update: April 29, 2019