Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Leber congenital amaurosis 13

Leber congenital amaurosis 13 is an autosomal recessive disorder caused by mutations of the RDH12 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
RDH12
Leber congenital amaurosis 14
Leber congenital amaurosis 15
Leber congenital amaurosis 16
Leber congenital amaurosis 17
Leber congenital amaurosis 18

References:

1.

Benayoun L et. al. (2009) Genetic heterogeneity in two consanguineous families segregating early onset retinal degeneration: the pitfalls of homozygosity mapping.

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2.

Janecke AR et. al. (2004) Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy.

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3.

Perrault I et. al. (2004) Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis.

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4.

Thompson DA et. al. (2005) Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle.

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5.

Fingert JH et. al. (2008) Association of a novel mutation in the retinol dehydrogenase 12 (RDH12) gene with autosomal dominant retinitis pigmentosa.

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6.

Stockton DW et. al. (1998) A novel locus for Leber congenital amaurosis on chromosome 14q24.

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7.

Jacobson SG et. al. (2007) RDH12 and RPE65, visual cycle genes causing leber congenital amaurosis, differ in disease expression.

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Update: Sept. 26, 2018