Macular corneal dystrophy
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Revision as of 02:34, 16 January 2010 by 70.129.181.170 (Talk)
| Macular corneal dystrophy | |
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| Classification and external resources | |
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File:Macular corneal dystrophy hale colloidal iron stain.JPEG The abnormalities within the cornea are easily seen within the keratocytes and in a subepithelial extracellular location because they stain prominently with methods that demonstrate glycosaminoglycans. Hale's colloidal iron stain. | |
| OMIM | 217800 |
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.[1]
The condition was first described by Arthur Groenouw in 1890.[2]
References
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<references />, or <references group="..." />External links
- 12px Media related to macular corneal dystrophy at Wikimedia Commons
- Dystrophy, macular at eMedicine
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This disease article is a stub. You can help ssf by expanding it. |
- ↑ Klintworth GK (2009). "Corneal dystrophies". Orphanet J Rare Dis. 4: 7. doi:10.1186/1750-1172-4-7. PMC 2695576 Freely accessible. PMID 19236704.
- ↑ Groenouw A. Knötchenförmige Hornhauttrübungen (noduli corneae). Arch Augenheilkunde. 1890;21:281–289.
