Title

Retinal Degeneration in the Abyssinian and Somali Cat (rdAc): Correlation between Genotype and Phenotype and rdAc Allele Frequency in Two Continents

Authors

Kristina Narfstrom, University of Missouri - Columbia
Victor David, National Cancer Institute at Frederick
Oswald Jarret, University of Glasgow - United Kingdom
Julia A. Beatty, University of Sydney - Australia
Vanessa R. Barrs, University of Sydney - Australia
David Wilkie, Ohio State University - Columbus
Stephen J. O'Brien, National Cancer Institute at FrederickFollow
Marilyn Menotti-Raymond, National Cancer Institute at Frederick

Document Type

Article

Publication Date

9-2009

Publication Title

Veterinary Opthalmology

Keywords

Allele frequency, Cat, Degeneration, Hereditary, Photoreceptor, Retina

ISSN

1463-5216

Volume

12

Issue/No.

5

First Page

285

Last Page

291

Abstract

Objective  To characterize hereditary retinal degeneration in the Abyssinian cat (rdAc) in a recently established closed colony segregating for the rdAc mutation, and evaluate possible differences in the age of onset and progression of disease phenotype since the initial description of rdAc 25 years ago. The sample size of an earlier study was increased in order to determine the allele frequency in Abyssinian and Somali cats on a worldwide basis.

Animals studied  Twenty rdAc affected cats from the closed animal facility, 87 Abyssinian and Somali cats for study of genotype–phenotype concordance, and DNA from 131 Abyssinian and Somali cats from Scandinavia, the UK and Australia for evaluation of the rdAc allele frequency.

Procedures  DNA was extracted from blood and buccal swabs using commercially available kits, followed by genotyping. Ophthalmic examinations were performed in the USA and Sweden by two board-certified veterinary ophthalmologists.

Results  A greater variation in the age of onset and progression of the disease was observed compared to that previously described. An excellent correlation between genotype and phenotype was observed. A population genetic survey revealed that the rdAc allele is in moderate abundance in the Abyssinian breed in Europe and Australia. Surprisingly, homozygosity for the mutant allele was observed in a Siamese cat with ophthalmoscopic findings similar to those originally described for affected rdAc individuals.

Conclusions  Alertness to the potential of rdAc is needed on the part of the veterinary ophthalmology community, not only in Abyssinian and Somali cats but possibly also in other related cat breeds.

Comments

©2009 American College of Veterinary Ophthalmologists

NSUWorks Citation

Narfstrom, Kristina; Victor David; Oswald Jarret; Julia A. Beatty; Vanessa R. Barrs; David Wilkie; Stephen J. O'Brien; and Marilyn Menotti-Raymond. 2009. "Retinal Degeneration in the Abyssinian and Somali Cat (rdAc): Correlation between Genotype and Phenotype and rdAc Allele Frequency in Two Continents." Veterinary Opthalmology 12, (5): 285-291. https://nsuworks.nova.edu/cnso_bio_facarticles/459

ORCID ID

0000-0001-7353-8301

ResearcherID

N-1726-2015