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Progressive Retinal Atrophy (Giant Schnauzer Type)

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Test Overview:

Progressive Retinal Atrophy (Giant Schnauzer Type) affects dogs and is an inherited eye disease. Progressive Retinal Atrophy causes degeneration of both Rod and Cone type Photoreceptor Cells of the Retina. These are important for vision in dim and bright light, respectively. Dogs affected with this disorder present with changes in reflectivity and appearance of a structure behind the retina called the Tapetum. A veterinarian may observe this during an eye exam. In addition, thinning of the retinal blood vessels may also be observed. Affected dogs have been reported with gradual vision loss beginning around 4 years of age, eventually progressing to complete blindness in most cases.

Category:

Ophthalmologic - Associated with the eyes and associated structures

Gene:

NECAP1

Variant Detected:

chr27:37468611: G/A

Severity:

Moderate-Severe. This is a disease with significant welfare impact on the affected animal, in terms of clinical signs and generally reduced life expectancy.

Mode of Inheritance:

Autosomal Recessive

Recommended Screening:

Genetic testing of the NECAP1 gene will reliably determine if a dog is a genetic carrier of PRA (giant schnauzer type).

Research Citation(s):

Hitti RJ, Oliver JAC, Schofield EC, Bauer A, Kaukonen M, Forman OP, Leeb T, Lohi H, Burmeister LM, Sargan D, Melleresh CS. Whole Genome Sequencing of Giant Schnauzer Dogs with Progressive Retinal Atrophy Establishes NECAP1 as a Novel Candidate Gene for Retinal Degeneration. Genes (Basel). 2019 May 21;10(5). pii: E385. doi: 10.3390/genes10050385. [PubMed: 31117272]

Associated Breed(s):

Giant Schnauzer, Schnoodle,

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