Associated Papers
Genotype-phenotype relationship in RDH12 retinopathy: a perspective from a pediatric age group.
Bacci GM et al.
Ophthalmic Genetics, 2025
Genetic and Clinical Profile of Retinopathies Due to Disease-Causing Variants in Leber Congenital Amaurosis (LCA)-Associated Genes in a Large German Cohort.
Zobor D et al.
International Journal of Molecular Sciences, 2023
37240262 (PubMed )
Supplement: ijms-24-08915-s001.zip › ijms-2363585-supplementary.pdf
Clinical and Genetic Analysis of RDH12-Associated Retinopathy in 27 Chinese Families: A Hypomorphic Allele Leads to Cone-Rod Dystrophy.
Wang J et al.
Investigative Ophthalmology & Visual Science, 2022
35994252 (PubMed )
Supplement: iovs-63-9-24_s004.xlsx › Sheet1
Exome Sequencing Identified a Recessive RDH12 Mutation in a Family with Severe Early-Onset Retinitis Pigmentosa.
Gong B et al.
Journal of Ophthalmology, 2015
Novel RDH12 mutations associated with Leber congenital amaurosis and cone-rod dystrophy: biochemical and clinical evaluations.
Sun W et al.
Vision Research, 2007
The phenotype of early-onset retinal degeneration in persons with RDH12 mutations.
Schuster A et al.
Investigative Ophthalmology & Visual Science, 2007
Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle.
Thompson DA et al.
Human Molecular Genetics, 2005
Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy.
Janecke AR et al.
Nature Genetics, 2004
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