OMIA:001707-9685 : Retinal degeneration, fluoroquinolone-induced in Felis catus (domestic cat) |
Categories: Vision / eye phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 603756 (gene)
Single-gene trait/disorder: unknown
Disease-related: yes
Molecular basis: Ramirez et al. (2011) reported four "Feline-specific amino acid changes in [conserved regions of] ABCG2 cause a functional defect of the [ABCG2] transport protein in cats", but did not identify any actual likely causal variants.
Pathology: "dysfunction of ABCG2 at the blood-retinal barrier likely results in accumulation of photoreactive fluoroquinolones in feline retina. Exposure of the retina to light would then generate reactive oxygen species that would cause the characteristic retinal degeneration and blindness documented in some cats receiving high doses of some fluoroquinolones. " (Ramirez et al., 2011)
Associated gene:
Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
---|---|---|---|---|---|---|
ABCG2 | ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group) | Felis catus | B1 | NC_058371.1 (132373756..132504308) | ABCG2 | Homologene, Ensembl , NCBI gene |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2016). OMIA:001707-9685: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
2011 | Ramirez, C.J., Minch, J.D., Gay, J.M., Lahmers, S.M., Guerra, D.J., Haldorson, G.J., Schneider, T., Mealey, K.L. : |
Molecular genetic basis for fluoroquinolone-induced retinal degeneration in cats. Pharmacogenet Genomics 21:66-75, 2011. Pubmed reference: 21150813. DOI: 10.1097/FPC.0b013e3283425f44. |
Edit History
- Created by Frank Nicholas on 11 Jul 2012
- Changed by Frank Nicholas on 11 Jul 2012
- Changed by Frank Nicholas on 17 Nov 2016