Wydanie 4/2016
str. 27 - 29

Geny i ich rola w rozwoju jaskry wrodzonej

Genes and Their Role in Congenital Glaucoma Development

Monika Modrzejewska 1 , Joanna Gorący 2

1 Katedra i Klinika Okulistyki Pomorskiego Uniwersytetu Medycznego w Szczecinie
Kierownik: prof. dr hab. n. med. Wojciech Lubiński, FEBO
2 Studenckie Koło Naukowe Katedry i Kliniki Okulistyki Pomorskiego Uniwersytetu Medycznego w Szczecinie
Opiekun Koła: dr hab. n. med. Monika Modrzejewska, prof. PUM

Summary: Congenital glaucoma is a disease which constitutes an important cause of blindness in children all over the world. Despite conducting detailed research on the cause of glaucoma, many aspects related to the mechanisms of the disease, are still to be clarified. Recently, more attention has been given to the genetic background, which may lead to glaucoma. Present interests are focused on a few candidates genes: CYP1B1, LTBP2, MYOC, and FOXC1. Due to a variety of mutations in those genes, exact mechanisms leading to the disease are not entirely explained. Mutations in CYP1B1 gene have been described as the first possible genetic cause of this disease. These mutations are considered to be responsible for most cases of the disease. However, the role of mutations in FOXC1 gene is yet to be established. What is more, these mutations often correlate with many other congenital syndromes, which, besides primary congenital glaucoma, can affect other ocular structures.
The aim of this study was to highlight the diagnostic difficulties, which may be caused by a complex pathogenesis of the disease. This study present a summary of the previous knowledge on the role of genetic factors in the development of congenital glaucoma.

Słowa kluczowe: jaskra wrodzona, geny, polimorfizmy genowe w jaskrze wrodzonej.

Keywords: congenital glaucoma, genes, polymorphisms in congenital glaucoma.