Inherited Eye Diseases: Recognition, Control, and Use of New DNA Tests to Reduce Incidence
Tufts' Canine and Feline Breeding and Genetics Conference, 2003
Gustavo Aguirre, VMD, PhD
Caspary Professor of Ophthalmology, Baker Institute, College of Veterinary Medicine, Cornell University
Ithaca, NY, USA

Inherited eye diseases are common in purebred animals, especially dogs. They affect the eye, and, because of breed/species-specific conformational standards, the affect the eye secondarily as a result of abnormal shape and/or conformation of the eyelids and other extraocular structures. Until recently, control was based on knowing the mode of inheritance, and eliminating from breeding all dogs that were affected or carriers of the disease. Because many of the disorders are inherited as autosomal recessive traits, control also resulted in elimination from breeding of dogs having a high probability of being carriers of these diseases.

Progress has recently been made in understanding the molecular bases of many of these diseases, particularly in dogs. We now know that many of the inherited retinal diseases are cause by defects (mutations) in genes known to affect retinal function. This has resulted in the availability of many DNA-based tests which are specific for the genetic defect, and, for recessive diseases, allow the use of affected or carrier animals in breeding programs as long as they are used for breeding to genetically normal animals. This prevents the likelihood of producing any affected animals, and, at the same time, maintaining the genetic diversity of these breeds, thus preventing the occurrence of other inherited diseases at a high prevalence rate.

In this seminar, we will review the different major inherited eye diseases in dogs and, where known, in cats. As well, we will discuss the application of new DNA testing technologies to help identify affected and carrier animals, and reduce the frequency of the mutation in the population while, at the same time, maintaining the genetic diversity of the breeds.

Currently Available Genetic Tests for Inherited Retinal Disorders

Breed

Disorder

Mode of Inheritance

Genetic Test

Am. Cocker Spaniel

Progressive Rod Cone Degeneration

AR

Linkage

Australian Cattle Dog

Progressive Rod Cone Degeneration

AR

Linkage

Briard

Congenital Stationary Night Blindness

AR

Direct

Bullmastiff

Autosomal Dominant PRA

AD

Direct

Cardigan Welsh Corgi

Rod Cone Dysplasia 3

AR

Direct

Chesapeake Bay Retriever

Progressive Rod Cone Degeneration

AR

Linkage

Eng. Cocker Spaniel

Progressive Rod Cone Degeneration

AR

Linkage

English Mastiff

Autosomal Dominant PRA

AD

Direct

German Shorthaired Pointer

Cone Degeneration

AR

Direct

Irish Red & White Setter

Rod Cone Dysplasia 1

AR

Direct

Irish Setter

Rod Cone Dysplasia 1

AR

Direct

Labrador Retriever

Progressive Rod Cone Degeneration

AR

Linkage

Miniature & Toy Poodle

Progressive Rod Cone Degeneration

AR

Linkage

Miniature Schnauzer

Type A PRA

AD

Direct

Nova Scotia Duck Trolling Retriever

Progressive Rod Cone Degeneration

AR

Linkage

Portuguese Water Dog

Progressive Rod Cone Degeneration

AR

Linkage

Samoyed

X-Linked PRA

XR

Direct

Siberian Husky

X-Linked PRA

XR

Direct

Sloughi

Rod Cone Dysplasia 1

AR

Direct

Speaker Information
(click the speaker's name to view other papers and abstracts submitted by this speaker)

Gustavo Aguirre, VMD, PhD
Baker Institute, College of Veterinary Medicine
Cornell University
Ithaca, NY


MAIN : : Inherited Eye Diseases
Powered By VIN
SAID=27