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Genetics of inherited eye disease

Genetic diseases are those that are passed on from parent to offspring through genes that carry the codes for each specific trait. Many of the diseases and disorders that affect the eyes have genetic factors.

How do we identify an inherited eye disease?

Although there are noteworthy exceptions, most of the ocular diseases of dogs which are presumed to be hereditary have not been adequately documented. Genetic studies require examination of large numbers of related animals in order to characterize the disorder (age of onset, characteristic appearance, rate of progression) and to define the mode of inheritance (recessive, dominant). In a clinical situation, related animals are frequently not available for examination once a disorder suspected as inherited is identified in an individual dog. Maintaining a number of dogs for controlled breeding trials through several generations is a long and costly process. Both of these obstacles are compounded by the fact that many ocular conditions do not develop until later in life. Until the genetic basis of an ocular disorder is defined in a peer-reviewed published report, we rely on what statistical information is available from registry organizations, informed opinions and consensus from ACVO diplomates. We must satisfy ourselves with terms like “presumed inherited” and “suspected to be inherited.” Several companies provide information on genetic testing and greatly assist in providing more information and data to aid in defining the canine genetics of ocular diseases.

There are eye diseases in the dog for which there is evidence of a genetic or heritable cause. The American College of Veterinary Ophthalmologists has listed ten of these diseases as automatic “fails” (this means the affected dog is ineligible to receive an eye certification) because of the significance of the condition to vision and/or the very strong evidence of heritability.

Portions of the material above have been reprinted with permission of the American College of Veterinary Ophthalmologists from the publication “Ocular Conditions Presumed to be Inherited in Purebred Dogs”, 5th Edition, 2010, produced by the Genetics Committee of the American College of Veterinary Ophthalmologists, © American College of Veterinary Ophthalmologists.

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