Lebersche kongenitale Amaurose 13 ist eine autosomal rezessive Erkrankung, die auf Mutationen des RDH12-Gens beruht.
1. |
Benayoun L et al. (2009) Genetic heterogeneity in two consanguineous families segregating early onset retinal degeneration: the pitfalls of homozygosity mapping. |
2. |
Janecke AR et al. (2004) Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy. |
3. |
Perrault I et al. (2004) Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis. |
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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. |
5. |
Fingert JH et al. (2008) Association of a novel mutation in the retinol dehydrogenase 12 (RDH12) gene with autosomal dominant retinitis pigmentosa. |
6. |
Stockton DW et al. (1998) A novel locus for Leber congenital amaurosis on chromosome 14q24. |
7. |
Jacobson SG et al. (2007) RDH12 and RPE65, visual cycle genes causing leber congenital amaurosis, differ in disease expression. |
8. |
OMIM.ORG article Omim 612712 |