The detail information of Macular corneal dystrophy
OMIA Basic Information
Possible human homologues (MIM numbers):
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal Recessive
Considered a defect: yes
Year key mutation first reported: 2016
Species-specific name: -
Species-specific symbol: -
More detail information can see in
Associated Breeds
There are associated breeds.
Associated Gene
| Symbol | Description | Species | Position | Other Links |
|---|---|---|---|---|
| LOC489707 | carbohydrate sulfotransferase 6 | Canis lupus familiaris | Chr5 : 75580429 - 75594782 | Homologene, Ensembl, NCBI gene |
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
| 2019 |
Busse,C.,Kafarnik,C.,Linn-Pearl,R.,Volmer,C.,Matiasek,K.,Premont,J.E.,Dulaurent,T.,Douet,J.Y.,Gilbert,I.,Jalomäki,S.,Trost,K.,Isard,P.F.,Boyd,R.,Raymond,I.: :
Phenotype of macular corneal dystrophy in Labrador Retrievers: A multicenter study. Vet Ophthalmol 22:294-304, 2019. Pubmed reference: 30701649 . DOI: 10.1111/vop.12596 . |
| 2016 |
TetasPont,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 . |
| 2013 |
Busse,C.,Kafarnik,C.,Tetas,R.etal.: :
Case report: A form of macular corneal dystrophy in a Labrador retriever. Abstract presentation in European College of Veterinary Ophthalmologists :, 2013. |