Podstawowe aspekty genetyczne w jaskrze młodzieńczej otwartego kąta oraz charakterystyka genu MYOC
Basic Genetic Aspects of Juvenile-Onset Primary Open-Angle Glaucoma and MYOC Gene Characteristics
Agnieszka Bielińska, Paweł Bieliński
I Klinika Okulistyki Akademii Medycznej w Lublinie Kierownik: prof. dr hab. med. Zbigniew Zagórski
Summary: The aim of the study was to present current theories and views on glaucoma pathogenesis, especially on the field of genetics. The term ?myocilin glaucoma? represents these cases of primary open-angle glaucoma and juvenile-onset open-angle glaucoma that are caused by mutations in the MYOC gene. Up to now over 70 mutations were found in several studies. Although family history is one of the risk factors in glaucoma, genetic researches did not support the theory that particular mutation in MYOC gene causes particular type of glaucoma. Instead, due to these studies more questions than answers arouse and made glaucoma more complicated disease than before.
Keywords: juvenile-onset open-angle glaucoma, primary open-angle glaucoma, myocilin glaucoma, TIGR gene, MYOC gene, genes in glaucoma, trabecular meshwork inducible glucocorticoid response, myocilin, locus GLC1A.