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Macular Corneal Dystrophy
Breed: Labrador Retriever
Generic Phene Data
Breeds
Relevance Rating: There is some evidence or research available for these breeds
General
Disease Name
Macular Corneal Dystrophy
OMIA
2071
Gene Name
LOC489707
Gene Name 2
CHST6
Mutation
c.814C>A
Test Type
Genetic Disease/Disorder
Details
Macular corneal dystrophy (MCD) causes cloudy eyes, due to an abnormal accumulation of glycosaminoglycans (carbohydrates) in their corneas, in affected dogs. The disease is progressive, and although not painful, can cause marked visual impairment in affected dogs. This hereditary disease appears to primarily affect middle-aged dogs.
Details 2
Macular corneal dystrophy (MCD) causes cloudy eyes, due to an abnormal accumulation of glycosaminoglycans (carbohydrates) in their corneas, in affected dogs. The disease is progressive, and although not painful, can cause marked visual impairment in affected dogs. This hereditary disease appears to primarily affect middle-aged dogs.
Published
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.
Published 2
Busse, C., Kafarnik, C., Tetas, R. et al. : Case report: A form of macular corneal dystrophy in a Labrador retriever. Abstract presentation in European College of Veterinary Ophthalmologists :, 2013.
Body/System/Process
Eye
OMIA Url
Inheritance
AR
Breed Specific Info
Researched Breeds
Labrador Retriever
Breed-specific 1
Labrador Retriever
Breed-specific 1 Details
Publication demonstrates strong association between mutatin and disease in Labrador retrievers. No functional evidence provided. Tetas Pont et al., (2016) A Carbohydrate Sulfotransferase-6 (CHST6) gene mutation is associated with Macular Corneal Dystrophy in Labrador Retrievers. Vet Ophthalmol, 19, 488-492.
Breed-specific 2
Australian Labradoodle
Breed-specific 2 Details
unpublished. But it is not unreasonable to screen any cross-breeds with Labrador retriever ancestry.
HSP Test-Specific Data
EVG Diagnostics
GTP
GTP Name
EVG Molecular Diagnostics
Breed
OMIA
Gene Name
CHST6
Mutation
c.814C>A
VetGen LLC
GTP
GTP Name
VetGen LLC
Breed
OMIA
Gene Name
CHST6
Mutation
c.814C>A
Weatherbys Scientific
GTP
GTP Name
Weatherbys Scientific
Breed
OMIA
Gene Name
CHST6
Mutation
c.814C>A
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