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Article

Natural History and Genotype-Phenotype Correlations in RDH12-Associated Retinal Degeneration.

Advances in experimental medicine and biology - 1 Jan 2019

Fahim Abigail T, Thompson Debra A

Abstract excerpt

Mutations in retinol dehydrogenase 12 (RDH12) cause a severe early-onset retinal degeneration, for which there is no treatment. RDH12 is involved in photoreceptor retinoid metabolism and is a potential target for gene therapy, which has been successful in treating RPE65-associated LCA. RDH12-associated retinal degeneration is particularly devastating due to early macular atrophy, which will likely impact...

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Identifiers

PMID: 31884613
DOI: 10.1007/978-3-030-27378-1_34
PMCID: PMC7065034

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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