Genetics of eye disorders in the dog.

Abstract

Inherited forms of eye disease are arguably the best described and best characterized of all inherited diseases in the dog, at both the clinical and molecular level and at the time of writing 29 different mutations have been documented in the scientific literature that are associated with an inherited ocular disorder in the dog. The dog has already played an important role in the identification of genes that are important for ocular development and function as well as emerging therapies for inherited blindness in humans. Similarities in disease phenotype and eye structure and function between dog and man, together with the increasingly sophisticated genetic tools that are available for the dog, mean that the dog is likely to play an ever increasing role in both our understanding of the normal functioning of the eye and in our ability to treat inherited eye disorders. This review summarises the mutations that have been associated with inherited eye disorders in the dog.Lay summary

Characterization of a novel form of progressive retinal atrophy in Whippet dogs: a clinical, electroretinographic, and breeding study

“…Interestingly, affected adult dogs with advanced retinal degeneration and total blindness did not show nystagmus. In common with typical PRA in dogs and RP in humans rod‐mediated vision was reduced initially (detectable from 1 month of age). Although impaired dim‐light vision could be demonstrated by vision testing, owners did not usually notice it until the dogs were 1 to even 2 years of age at which stage there was advanced retinal degeneration.…”

Epidemiology of ocular disorders presumed to be inherited in three small Italian dog breeds in Italy

“…Inherited eye diseases significantly impair vision in humans and animals . As of 2015, 278 genes and loci have been associated with retinal disorders in humans .…”

“…Several inherited and presumed to be inherited eye disorders have been described in purebred dogs . Until the genetic basis of an ocular disorder is properly defined, ocular disorders that are suspected to have a genetic basis are defined as ‘known and presumed‐hereditary eye diseases’ (KP‐HED).…”

The effect of repeated eye examinations and breeding advice on the prevalence and incidence of cataracts and progressive retinal atrophy in German dachshunds over a 13‐year period

“…Progressive retinal atrophy and cone‐rod dystrophy are collective terms for two broad forms of progressive, bilateral degenerative diseases that affect the retinal photoreceptor cells . The authors of the present study use the general term PRA for both broad forms because this is the term used in the ECVO certificate.…”