title: [Genetic studies on primary open angle glaucoma].
abstract: Case work presents the newest studies on molecular genetics in primary open angle glaucoma. The molecular genetics in all types of glaucoma have been a subject of investigations for the last few years. As a result, two loci (GLC3A and GLC3B) have been identified for primary congenital glaucoma, one locus (GLC1A) for juvenile primary open angle glaucoma and further two loci (GLC1B and GLC1C) for adult-onset primary open angle glaucoma. The gene TIGR (trabecular meshwork inducible glucocorticoid response protein) localised in GLC1A was described last year for the first time, thereafter there were trials on mutations within this gene conducted successfully. In this review there are studies presenting the mapping of the first five GLC loci and identification of mutations.
authors.affiliation: Katedry i Kliniki Okulistyki II Wydziału Lekarskiego AM w Warszawie.
authors.forename: J
authors.initials: J
authors.lastname: Szaflik
authors.forename: A M
authors.initials: AM
authors.lastname: Ambroziak
authors.forename: J
authors.initials: J
authors.lastname: Bal
authors.forename: M
authors.initials: M
authors.lastname: Gacek
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D004252:DNA Mutational Analysis; D005136:Eye Proteins / Q000235:genetics; D005260:Female; D005902:Glaucoma, Open-Angle / Q000235:genetics* / Q000473:pathology; D006023:Glycoproteins / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D017354:Point Mutation / Q000235:genetics; D016133:Polymerase Chain Reaction; D014129:Trabecular Meshwork / Q000473:pathology
chemical_list: D005136:Eye Proteins; D006023:Glycoproteins
vernacular_title: Badania genetyczne rodzin w jaskrze pierwotnej otwartego kata.