Macular corneal dystrophy
Encyclopedia
Macular corneal dystrophy (MCDC; sometimes also Fehr
corneal dystrophy) is a rare pathological condition affecting the stroma of cornea. The first signs are usually noticed in the first decade of life, and progress afterwards, with opacities developing in the cornea and attacks of pain. MCDC is inherited in autosomal recessive fashion and is thought to be caused by the lack or abnormal confuguration of keratan sulfate
. Most cases of MCD are caused by mutations in CHST6
gene.
The condition was first described by Arthur Groenouw
in 1890.
Oskar Fehr
Oskar Fehr was a German ophthalmologist. Among his medical specialties were swimming pool conjunctivitis, tumours of the eye, and retinal detachment. He was an internationally renowned eye surgeon....
corneal dystrophy) is a rare pathological condition affecting the stroma of cornea. The first signs are usually noticed in the first decade of life, and progress afterwards, with opacities developing in the cornea and attacks of pain. MCDC is inherited in autosomal recessive fashion and is thought to be caused by the lack or abnormal confuguration of keratan sulfate
Keratan sulfate
Keratan sulfate , also called keratosulfate, is any of several sulfated glycosaminoglycans that have been found especially in the cornea, cartilage, and bone. It is also synthesized in the central nervous system where it participates both in development and in the glial scar formation following an...
. Most cases of MCD are caused by mutations in CHST6
CHST6
Carbohydrate sulfotransferase 6 is an enzyme that in humans is encoded by the CHST6 gene.It codes for an enzyme necessary for the production of keratan sulfate. Mutations in the gene lead to macular corneal dystrophy.-Further reading:...
gene.
The condition was first described by Arthur Groenouw
Arthur Groenouw
Arthur Groenouw was a German ophthalmologist born in Bosatz, a village near Ratibor. He studied medicine in Breslau, and was an assistant to physiologist Rudolf Heidenhain and ophthalmologist Wilhelm Uhthoff...
in 1890.
External links
- Dystrophy, macular at eMedicineEMedicineeMedicine is an online clinical medical knowledge base that was founded in 1996 by Scott Plantz and Richard Lavely, two medical doctors. The website is searchable by keyword and consists of approximately 6,800 articles, each of which is associated with one of 62 clinical subspecialty textbooks...