OMIA:002469-9685 : Retinopathy, RDH5-related in Felis catus (domestic cat) |
Categories: Vision / eye phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 601617 (gene) , 136880 (trait)
Single-gene trait/disorder: yes
Mode of inheritance: Probably autosomal recessive
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2021
Species-specific symbol: IRD-RDH5 (Mowat et al., 2024)
Molecular basis: 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]).”
Clinical features: 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:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| RDH5 | retinol dehydrogenase 5 (11-cis/9-cis) | Felis catus | B4 | NC_058374.1 (82296879..82301544) | RDH5 | Ensembl, NCBI gene |
Variants
By default, variants are sorted chronologically by year of publication, to provide a historical perspective.
Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending
order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column
headers.
WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
| OMIA Variant ID | Breed(s) | Variant Phenotype | Gene | Allele | Variant Type | Variant Effect | Source of Genetic Variant | Pathogenicity Classification* | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1377 | Retinopathy | RDH5 | substitution | missense | Naturally occurring variant | Not currently ISAG evaluated | F.catus_Fca126_mat1.0 | B4 | NC_058374.1:g.82298824G>T | XM_019835050.2:c.542G>T | XP_019690609.1:p.(G181V) | 2021 | 34726233 | Genomic position in Felis_catus_9.0 provided by Joshua Khamis. Updated to F.catus_Fca126_mat1.0 by Bella Bartner. |
* Variant pathogenicity for single gene diseases as evaluated by an expert panel of the International Society of Animal Genetics (ISAG) Animal Genetic Testing Standardization Standing Committee
Contact us
If you notice anything missing or in need of change, please contact us at: [email protected].
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2025). OMIA:002469-9685: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
| 2025 | Petersen-Jones, S.M., Beckwith-Cohen, B. : |
| Gene therapy advances using canine and feline animal models of inherited retinal degeneration. Eye (Lond) , 2025. Pubmed reference: 40461693. DOI: 10.1038/s41433-025-03825-y. | |
| 2024 | Boeykens, F., Abitbol, M., Anderson, H., Casselman, I., de Citres, C.D., Hayward, J.J., Häggström, J., Kittleson, M.D., Lepri, E., Ljungvall, I., Longeri, M., Lyons, L.A., Ohlsson, Å., Peelman, L., Smets, P., Vezzosi, T., van Steenbeek, F.G., Broeckx, B.J.G. : |
| Development and validation of animal variant classification guidelines to objectively evaluate genetic variant pathogenicity in domestic animals. Front Vet Sci 11:1497817, 2024. Pubmed reference: 39703406. DOI: 10.3389/fvets.2024.1497817. | |
| Ford, L., Occelli, L., Sun, K., Enfield, M., Hauswirth, W., Petersen-Jones, S.M. : | |
| AAV2 gene therapy rescues rod photoreceptor functional recovery in the RDH5-mutant cat. Invest. Ophthalmol. Vis. Sci. 65(7):6080, 2024. | |
| Mowat, F.M., Iwabe, S., Aguirre, G.D., Petersen-Jones, S.M. : | |
| Consensus guidelines for nomenclature of companion animal inherited retinal disorders. Vet Ophthalmol 28:663-667, 2024. Pubmed reference: 38334230. DOI: 10.1111/vop.13185. | |
| 2021 | Occelli, L.M., Daruwalla, A., De Silva, S.R., Winkler, P.A., Sun, K., Pasmanter, N., Minella, A., Querubin, J., Lyons, L.A., Consortium, L., Robson, A.G., Heon, E., Michaelides, M., Webster, A.R., Palczewski, K., Vincent, A., Mahroo, O.A., Kiser, P.D., Petersen-Jones, S.M. : |
| A large animal model of RDH5-associated retinopathy recapitulates important features of the human phenotype. Hum Mol Genet 31:1263-1277, 2021. Pubmed reference: 34726233. DOI: 10.1093/hmg/ddab316. |
Edit History
- Created by Imke Tammen2 on 04 Nov 2021
- Changed by Imke Tammen2 on 27 Apr 2025
- Changed by Imke Tammen2 on 01 Jun 2025
- Changed by Imke Tammen2 on 28 Jun 2025