OMIA:002267-9685 : Retinal atrophy, progressive, KIF3B-related in Felis catus (domestic cat)

Categories: Vision / eye phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 603754 (gene) , 618955 (trait)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2020

Cross-species summary: Progressive, non-inflammatory degeneration or dysplasia of rods and cones or just of rods, leading to firstly night blindness, and later to blindness during the day.

Species-specific name: inherited retinal dystrophic or degenerative disorders; early-onset, autosomal-recessive, progressive retinal degeneration in Bengal cats; Bengal progressive retinal degeneration

Species-specific description: This is an interesting example of where mapping and sequence knowledge in the cat provided sufficient information to enable human geneticists to identify two likely causal variants in humans.

Inheritance: Ofri et al. (2015): "Pedigree analysis, along with test and complementation breedings, indicated autosomal recessive inheritance and suggested that this disease is nonallelic to a retinal degeneration found in Persian cats."

Mapping: Cogné et al. (2020) "performed a genome-wide association study on 98 Bengal cats to localize an associated region on cat chromosome A3".

Molecular basis: Cogné et al. (2020) "overlaid . . . [the mapping results - see above] with whole-genome sequencing data from a trio of cats from the Bengal research colony . . . . The KIF3B p.Ala334Thr-encoding change was the sole variant that segregated with disease and is predicted to impair the kinesin motor domain".

Clinical features: Ofri et al. (2015): "Ophthalmoscopic signs of retinal degeneration were noted at 9 weeks of age and became more noticeable over the next 4 months. Visual deficits were behaviorally evident by 1 year of age. Electroretinogram demonstrated reduced rod and cone function at 7 and 9 weeks of age, respectively. Rod responses were mostly extinguished at 14 weeks of age; cone responses were minimal by 26 weeks."

Pathology: Ofri et al. (2015): "Histologic degeneration was first observed at 8 weeks, evidenced by reduced photoreceptor numbers, then rapid deterioration of the photoreceptor layer and, subsequently, severe outer retinal degeneration."

Genetic testing: The web site of the Veterinary Genetics Laboratory at UC Davis is advertising a DNA test for this disorder: Langford Vets also offer the test: The likely causal variant was published after DNA testing was made available. (Thanks to Maarten de Groot for advising FN of the test (5 May 2017). The likely causal variant was published by Cogné et al. (2020).

Breeds: Bengal (Cat) (VBO_0100040), Highlander (Cat) (VBO_0100114), Highlander Shorthair (Cat) (VBO_0100116), Savannah (Cat) (VBO_0100208).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
KIF3B kinesin family member 3B Felis catus A3 NC_058370.1 (26544829..26503288) KIF3B Homologene, Ensembl , NCBI gene


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 Type of Variant Source of Genetic Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
1191 Bengal (Cat) Highlander (Cat) Highlander Shorthair (Cat) Savannah (Cat) Progressive retinal atrophy KIF3B missense Naturally occurring variant Felis_catus_9.0 A3 g.26784019C>T c.1000G>A p.(A334T) ENSFCAT00000022266; c.1000G>A (p.Ala334Thr) rs5334475117 2020 32386558 The genomic location on Felis_catus_9.0 is based on Rodney et al. 2021 (PMID: 33785770). Additional breeds reported based on PMID:35709088.

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:002267-9685: Online Mendelian Inheritance in Animals (OMIA) [dataset].


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.

2022 Anderson, H., Davison, S., Lytle, K.M., Honkanen, L., Freyer, J., Mathlin, J., Kyöstilä, K., Inman, L., Louviere, A., Chodroff Foran, R., Forman, O.P., Lohi, H., Donner, J. :
Genetic epidemiology of blood type, disease and trait variants, and genome-wide genetic diversity in over 11,000 domestic cats. PLoS Genet 18:e1009804, 2022. Pubmed reference: 35709088. DOI: 10.1371/journal.pgen.1009804.
2021 Rodney, A.R., Buckley, R.M., Fulton, R.S., Fronick, C., Richmond, T., Helps, C.R., Pantke, P., Trent, D.J., Vernau, K.M., Munday, J.S., Lewin, A.C., Middleton, R., Lyons, L.A., Warren, W.C. :
A domestic cat whole exome sequencing resource for trait discovery. Sci Rep 11:7159, 2021. Pubmed reference: 33785770. DOI: 10.1038/s41598-021-86200-7.
2020 Cogné, B., Latypova, X., Senaratne, L.D.S., Martin, L., Koboldt, D.C., Kellaris, G., Fievet, L., Le Meur, G., Caldari, D., Debray, D., Nizon, M., Frengen, E., Bowne, S.J. :
Mutations in the kinesin-2 motor KIF3B cause an autosomal-dominant ciliopathy. Am J Hum Genet 106:893-904, 2020. Pubmed reference: 32386558. DOI: 10.1016/j.ajhg.2020.04.005.
Lyons, L.A. :
Precision medicine in cats-The right biomedical model may not be the mouse! PLoS Genet 16:e1009177, 2020. Pubmed reference: 33290388. DOI: 10.1371/journal.pgen.1009177.
2015 Ofri, R., Reilly, C.M., Maggs, D.J., Fitzgerald, P.G., Shilo-Benjamini, Y., Good, K.L., Grahn, R.A., Splawski, D.D., Lyons, L.A. :
Characterization of an early-onset, autosomal recessive, progressive retinal degeneration in Bengal cats. Invest Ophthalmol Vis Sci 56:5299-308, 2015. Pubmed reference: 26258614. DOI: 10.1167/iovs.15-16585.
2011 Swanson, W.F., Bateman, H.L., Newsom, J., Conforti, V.A., Herrick, J.R., Lambo, C.A., Haskins, M.E., Lyons, L.A., Kittleson, M.D., Harris, S.P., Fyfe, J.C., Magarey, G.M. :
Propagation of multiple cat hereditary disease models following assisted reproduction with frozen semen and embryos Reproduction, Fertility and Development 24:139-140 (Abstract 55), 2011.

Edit History

  • Created by Frank Nicholas on 14 May 2020
  • Changed by Frank Nicholas on 14 May 2020
  • Changed by Imke Tammen2 on 07 May 2023
  • Changed by Imke Tammen2 on 08 May 2023
  • Changed by Imke Tammen2 on 21 Jun 2024