Associated Papers
Retinal Degeneration Associated With Biallelic RDH12 Variants: Longitudinal Evaluation of Retinal Structure and Visual Function in Pediatric Patients.
Aleman TS et al.
Investigative Ophthalmology & Visual Science, 2024
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
Novel RDH12 mutations associated with Leber congenital amaurosis and cone-rod dystrophy: biochemical and clinical evaluations.
Sun W et al.
Vision Research, 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
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