Disease overview

Macular Corneal Dystrophy is an inherited eye condition in which there is accumulation of a carbohydrate called glycosaminoglycans in the cornea. The cornea is the outermost surface of the eye.

Gene name

CHST6

Inheritance

Autosomal recessive

Signs and symptoms

Clinical signs include hazy and cloudy eyes. Vision loss may be apparent, with hesitation to walk down stairs, bumping into walls, or nervousness in unfamiliar locations as indicators. This disease occurs in middle-aged dogs.

How is it diagnosed

Thorough examination of the eyes and clinical signs. A veterinary ophthalmologic exam can determine if there are changes in the eye that have or will lead to vision loss. Genetic testing is necessary to determine if there is an underlying genetic cause, which can assist veterinarians with diagnosis and help breeders identify affected and carrier dogs.

Breeds at higher risk

Citations

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. doi: 10.1111/vop.12332. Epub 2015 Nov 20. PMID: 26585178.

Disclaimer

Disease diagnosis and treatment should always be performed by a veterinarian. The following information is for educational purposes only.