Makuläre Hornhautdystrophie (MCD)
Macular corneal dystrophy (MCD)
General description
At the age of four to six years, affected dogs show clouding of their corneas and white to gray spots consisting of accumulated carbohydrates. At some affected dogs, the growth of new blood vessels across the surface of the cornea could be visible, too. The disease progresses to severe visual impairment.
Breeds
Labrador Retriever
Order details
| Test number | 8736 |
| Abbreviation | MCD |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Test specifications
| Symptom complex | ophthalmic |
| Inheritance | autosomal recessive |
| Age of onset | 4-6 years |
| Causality | causally |
| Gene | LOC489707 |
| Mutation | C-A |
| Literature | OMIA:002071-9615 |
Detailed description
Macular corneal dystrophy (MCD) is an inherited, progressive eye disease that affects the stroma of the cornea. The disease is caused by a genetic variant of the CHST6 gene. The CHST6 gene encodes for an enzyme that is involved in building keratan sulfate, a carbohydrate that is believed to be important for the hydration of the cornea. At the age of four to six years, affected dogs show clouding of their corneas and white to gray spots consisting of accumulated carbohydrates. At some affected dogs, the growth of new blood vessels across the surface of the cornea could be visible, too. The disease progresses to severe visual impairment. With the genetic test, carriers of the variant can be identified before they are used for breeding and thus, affected puppies can be avoided.
