Corneal Dystrophies

Corneal dystrophies are inherited conditions where patients develop bilateral and symmetrical corneal opacities commonly involving the central cornea. This condition can cause a decrease in vision, as well as symptoms of irritation and watering. Studies done in the Institute have helped us to understand the disease process better. Studies aimed at identifying mutations in the BIGH3 gene, the cause of diseases like Lattice, Granular and Reis-Bucklers dystrophies, have resulted in the identification of some mutations that are common to different populations, as well as some novel mutations. The other common dystrophy that causes significant visual impairment requiring corneal grafting is Macular Corneal Dystrophy (MCD). Studies on 37 patients with MCD have revealed several new mutations in the carbohydrate sulphotransferase gene. Genetic research is being conducted to find the mutation in the more difficult cases.



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