Macular corneal dystrophy

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Macular corneal dystrophy
Classification and external resources
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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External links


ru:Пятнистая дистрофия роговицы
  1. Klintworth GK (2009). "Corneal dystrophies". Orphanet J Rare Dis. 4: 7. doi:10.1186/1750-1172-4-7. PMC 2695576Freely accessible. PMID 19236704. 
  2. Groenouw A. Knötchenförmige Hornhauttrübungen (noduli corneae). Arch Augenheilkunde. 1890;21:281–289.