engleski

High prevalence of glaucoma in Veli Brgud, Croatia, is caused by a dominantly inherited T377M mutation in the MYOC gene

The majority of the glaucoma cases endemic to Veli Brgud village are due to a known point mutation in MYOC gene, where tyrosine is replaced by methionine in the myocilin protein. It is estimated from the studies conducted to date that up to 20% of patients with early-onset OAG and 3%-5% of patients with adult-onset OAG have defects in this gene.

glaucoma; Veli Brgud; Croatia; T377M mutation; MYOC gene

nije evidentirano