Leber congenital amaurosis 13

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

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

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

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.

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

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

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

OMIM.ORG article