D. Calugaru

introdus la 01.12.2010

 

Rezumat
Formele de glaucom cu instalare precoce sunt mostenite ca trasaturi mendeliene autosomal dominante sau recesive.Ele includ glaucomul primar congenital sau infantil,glaucomul primar cu unghi deschis cu instalare precoce (glaucom juvenil), glaucoamele de dezvoltare (sindromul Rieger, glaucomul asociat sindromului patelar, anomalia Peters si nanoftalmusul) si glaucomul asociat sindromului de dispersie pigmentara.
Terapia genica personalizata a fost propusa ca o strategie terapeutica alternativa pentru bolile oculare. Acest abord ar putea fi aplicabil in familiile cu glaucom primar congenital cu mutatii definite in gena CYP1B1.

Cuvinte cheie: glaucom primar congenital, glaucom juvernil ,terapie genica personalizata

Abstract
Early-onset forms of glaucoma are inherited as mendelian-dominant or mendelian-recessive traits. They encompass primary congenital or infantile glaucoma; juvenile primary open-angle glaucoma; development glaucomas including Rieger syndrome, glaucoma associated with nail-patella syndrome ,Peters’ anomaly, and nanophthalmos; and glaucoma associated with pigment dispersion syndrome.
Personalized gene therapy has been proposed as an alternative therapeutic strategy for ocular diseases. This approach might be applicable in families with primary congenital glaucoma and defined mutations in the CYP1B1 gene.

Key words: primary congenital glaucoma; juvenile glaucoma; personalized gene therapy