OMIA 000830-9685 : Progressive retinal atrophy in Felis catus

In other species: dog , sheep

Possibly relevant human trait(s) and/or gene(s) (MIM number): 613767

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: no

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.

Genetic testing: The web site of the Veterinary Genetics Laboratory at UC Davis is advertising a DNA test for this disorder:

https://www.vgl.ucdavis.edu/services/cat/BengalPRA.php

To FN's knowledge, the likely causal variant has not yet (5 May 2017) been published. (Thanks to Maarten de Groot for advising FN of the test.)

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.
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 Narfström, K., Menotti Raymond, M., Seeliger, M. :
Characterization of feline hereditary retinal dystrophies using clinical, functional, structural and molecular genetic studies. Vet Ophthalmol 14 Suppl 1:30-6, 2011. Pubmed reference: 21923821. DOI: 10.1111/j.1463-5224.2011.00915.x.
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.
2004 Ekesten, B., Narfström, K. :
Abnormal dark-adapted ERG in cats heterozygous for a recessively inherited rod-cone degeneration. Vet Ophthalmol 7:63-7, 2004. Pubmed reference: 14738510.
2002 Djojadiningrat-Laanen, S.C., Vaessen, M.M.A.R., Stades, F.C., Boeve, M.H., van, de, Sandt, R.R.O.V. :
Progressive retinal atrophy in Abyssinian and Somali cats in the Netherlands (1981-2001) Tijdschrift voor Diergeneeskunde 127:508-514, 2002. Pubmed reference: 12244853.
2001 Narfstrom, K., Ehinger, B., Bruun, A. :
Immunohistochemical studies of cone photoreceptors and cells of the inner retina in feline rod-cone degeneration Veterinary Ophthalmology 4:141-145, 2001. Pubmed reference: 11422996.
Nilsson, S.F.E., Maepea, O., Alm, A., Narfstrom, K. :
Ocular blood flow and retinal metabolism in Abyssinian cats with hereditary retinal degeneration Investigative Ophthalmology & Visual Science 42:1038-1044, 2001. Pubmed reference: 11274083.
1998 Ivert, L., Gouras, P., Naeser, P., Narfstrom, K. :
Photoreceptor allografts in a feline model of retinal degeneration Graefes Archive for Clinical & Experimental Ophthalmology 236:844-852, 1998.
1989 Bedford, P.G.C. :
Control of inherited retinal degeneration in dogs and cats in the United Kingdom Journal of Small Animal Practice 30:172-177, 1989.
1981 Narfstrom, K. :
PRA in Abyssinian cats in Sweden (correspondence) Veterinary Record 109:24, 1981.
Narfstrom, K. :
Progressive retinal atrophy in Abyssinian cats Svensk Veterinartidning 33:147-150, 1981.
1963 Rubin, L.F. :
Atrophy of rods and cones in the cat retina Journal of the American Veterinary Medical Association 142:1415-1420, 1963. Pubmed reference: 13983005.

Edit History


  • Created by Frank Nicholas on 10 Sep 2005
  • Changed by Frank Nicholas on 02 May 2014
  • Changed by Frank Nicholas on 02 Apr 2016
  • Changed by Frank Nicholas on 05 May 2017