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Macular Corneal Dystrophy (Labrador Type)

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Test Overview:

Macular corneal dystrophy affects dogs and is an inherited, progressive eye disease. Affected dogs frequently present with clouding of their corneas accompanied by pinpoint white to grey spots made up of an accumulation of a carbohydrate known as glycosaminoglycan, around 4 to 6 years of age. Some affected dogs will also display growth of new blood vessels across the surface of their corneas. The disease will typically progress to compromise vision. Macular corneal dystrophy is a relatively rare disease which is inherited as an autosomal recessive trait, meaning that both parents must be at least carriers of the disease to produce an affected offspring. The disease is characterised by a diffuse cloudiness of the cornea as well as an abnormally thin cornea in affected animals. Affected dogs will develop cloudy eyes, due to an abnormal accumulation of glycosaminoglycans in their corneas (the equivalent to the windscreen of the eye).

Category:

Ophthalmologic - Associated with the eyes and associated structures

Gene:

CHST6

Variant Detected:

chr5:75279762 (canFam3): C>A

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 CHST6 gene will reliably determine whether a dog is a genetic Carrier of macular corneal dystrophy.

Research Citation(s):

Vet Ophthalmol. 2019 Jan 30. doi: 10.1111/vop.12596. [Epub ahead of print] Phenotype of macular corneal dystrophy in Labrador Retrievers: A multicenter study. Busse C1, Kafarnik C1, Linn-Pearl R2, Volmer C1, Matiasek K3, Premont JE4, Dulaurent T5, Douet JY6, Gilbert I7, Jalomäki S8, Trost K9, Isard PF5, Boyd R10, Raymond I6. Tetas Pont, R., Downs, L., Pettitt, L., Busse, C., Mellersh, C.S. : A Carbohydrate Sulfotransferase-6 (CHST6) gene mutation is associated with Macular Corneal Dystrophy in Labrador Retrievers. Vet Ophthalmol 19:488-492, 2016. Pubmed reference: 26585178. DOI: 10.1111/vop.12332. Tetas Pont R, Downs L, Pettitt L, Busse C, Mellersh CS. A Carbohydrate Sulfotransferase-6 (CHST6) gene mutation is associated with Macular Corneal Dystrophy in Labrador Retrievers. Vet Ophthalmol. 2016 Nov;19(6):488-492. [PubMed: 26585178]

Associated Breed(s):

Australian Labradoodle , Goldendoodle, Labradoodle , Labradoodle Retrodoodle , Labrador Retriever,

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