Cat (Felis catus) — Retinopathy, RDH5-related (hereditary; OMIA-verified species predisposition)

Source: first-hand OMIA (University of Sydney) species-specific hereditary-disorder record, saved verbatim to source_file; every claim below is a C1 byte-substring of it.

Claims

Species: Cat (Felis catus)
Disorder: Retinopathy, RDH5-related
Clin feat: Occelli et al. (2021) “affected cats have a marked delay in recovery of dark adaptation. Additionally, the cats develop a degeneration of the area centralis (equivalent to the human macula). … There is notable variability in the age at onset of the area centralis changes in the cat, with most developing changes as juveniles but some not showing changes over the first few years of age."

Associated gene(s)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.

Gene: Entrez Gene ID 389720973 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
OMIA molecular-genetics note: Occelli et al. (2021) “present a new domestic cat model [of macular atrophy] with a loss-of-function missense mutation in RDH5 (c.542G > T; p.Gly181Val [omia.variant:1377]).”

Evidence (references)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.

2021. A large animal model of RDH5-associated retinopathy recapitulates important features of the human phenotype. Hum Mol Genet — PubMed:PMID34726233 | DOI:10.1093/hmg/ddab316 — OMIA Phene_Article / Article
2024. Consensus guidelines for nomenclature of companion animal inherited retinal disorders. Vet Ophthalmol — PubMed:PMID38334230 | DOI:10.1111/vop.13185 — OMIA Phene_Article / Article
2024. Development and validation of animal variant classification guidelines to objectively evaluate genetic variant pathogenicity in domestic animals. Front Vet Sci — PubMed:PMID39703406 | DOI:10.3389/fvets.2024.1497817 — OMIA Phene_Article / Article
2024. AAV2 gene therapy rescues rod photoreceptor functional recovery in the RDH5-mutant cat. Invest. Ophthalmol. Vis. Sci. — OMIA Phene_Article / Article
2025. Gene therapy advances using canine and feline animal models of inherited retinal degeneration. Eye (Lond) — PubMed:PMID40461693 | DOI:10.1038/s41433-025-03825-y — OMIA Phene_Article / Article

Comparative medicine (human OMIM)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.

OMIM:601617 (type: gene) — OMIA Group_OMIM (via OMIA_ID)
OMIM:136880 (type: trait) — OMIA Group_OMIM (via OMIA_ID)

Cat (Felis catus) — Retinopathy, RDH5-related (hereditary; OMIA-verified species predisposition)