OMIA 001707-9685 : Retinal degeneration, fluoroquinolone-induced in Felis catus

Possibly relevant human trait(s) and/or gene(s) (MIM number): 138900

Mendelian trait/disorder: unknown

Considered a defect: 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_018726.3 (134908430..134975800) ABCG2 Homologene, Ensembl, NCBI gene

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