Associated Papers
Dual inheritance patterns: A spectrum of non-syndromic inherited retinal disease phenotypes with varying molecular mechanisms.
Holtes LK et al.
Progress in Retinal and Eye Research, 2025
Dominant RDH12-retinitis pigmentosa impairs photoreceptor development and implicates cone involvement in retinal organoids.
Méjécase C et al.
Frontiers in Cell and Developmental Biology, 2025
Pseudocoloboma-like maculopathy with biallelic RDH12 missense mutations.
Kuo CY et al.
Journal of Medical Genetics, 2023
Novel disease-causing variant in RDH12 presenting with autosomal dominant retinitis pigmentosa.
Muthiah MN et al.
The British Journal of Ophthalmology, 2022
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
RDH12 retinopathy: clinical features, biology, genetics and future directions.
Daich Varela M et al.
Ophthalmic Genetics, 2022
Report from a Workshop on Accelerating the Development of Treatments for Inherited Retinal Dystrophies Associated with Mutations in the RDH12 Gene.
Sofia F et al.
Translational Vision Science & Technology, 2020
32855876 (PubMed )
Supplement: tvst-9-8-30_s001.docx
Novel Heterozygous Deletion in Retinol Dehydrogenase 12 (RDH12) Causes Familial Autosomal Dominant Retinitis Pigmentosa.
Sarkar H et al.
Frontiers in Genetics, 2020
Retinol dehydrogenase 12 (RDH12): Role in vision, retinal disease and future perspectives.
Sarkar H et al.
Experimental Eye Research, 2019
Structural Insights into the Drosophila melanogaster Retinol Dehydrogenase, a Member of the Short-Chain Dehydrogenase/Reductase Family.
Hofmann L et al.
Biochemistry, 2016
Association of a novel mutation in the retinol dehydrogenase 12 (RDH12) gene with autosomal dominant retinitis pigmentosa.
Fingert JH et al.
Archives of Ophthalmology (chicago, Ill. : 1960), 2008
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