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Stargardt Disease (Retinal Degeneration)

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Test Overview:

Stargardt Disease affects dogs and is a progressive inherited eye disease. Stargardt disease is caused by the degeneration of both Rod and Cone type Photoreceptor Cells of the Retina, which are important for vision in dim and bright light. Dogs affected with this disease present with signs of vision loss, including dilated pupils and decreased response to light prior to 10 years of age. Affected dogs will have progressive changes in reflectivity and appearance of a structure behind the retina, called the Tapetum, that can be observed on a veterinary eye exam. In addition, mild to moderate thinning of the retinal blood vessels may also be observed. However, signs of Stargardt disease are subtle in the first two years of life and may not be identified on early eye exams. Stargardt disease severity and speed of disease progression may vary. Dogs may not completely lose their vision during their lifetime, but will develop significant loss of vision, especially in well-lit environments.

Category:

Ophthalmologic - Associated with the eyes and associated structures

Gene:

ABCA4

Variant Detected:

chr6:55146556-55146557: 1 bp insertion (ins C)

Severity:

Low-Moderate. This disease can cause some discomfort and/or dysfunction in the affected animal. It does not generally affect life expectancy.

Mode of Inheritance:

Autosomal Recessive

Recommended Screening:

Genetic testing of the ABCA4 gene will reliably determine if a dog is a genetic carrier of Stargardt disease.

Research Citation(s):

Ekesten B, Mäkeläinen S, Ellis S, Kjellström U, Bergström TF. Abnormal Appearance of the Area Centralis in Labrador Retrievers With an ABCA4 Loss-of-function Mutation. Transl Vis Sci Technol. 2022 Feb 1;11(2):36. doi: 10.1167/tvst.11.2.36. [PubMed: 35201338] Makelainen S, Godia M, Hellsand M, Viluma A, Hahn D, Makdoumi K, Zeiss CJ, Mellersh C, Ricketts SL, Narfstrom K, Hallbook F, Ekesten B, Andersson G, Bergstrom TF. An ABCA4 loss-of-function mutation causes a canine form of Stargardt disease. [PubMed: 30889179]

Associated Breed(s):

Australian Cobberdog, Australian Labradoodle , Cavador, Double Doodle, Labradoodle , Labradoodle Retrodoodle , Labrador Retriever,

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