title: The TIGR gene, pathogenic mechanisms, and other recent advances in glaucoma genetics.
abstract: Important advances have been made within the past year in the area of glaucoma genetics, including the identification of the TIGR gene for adult as well as juvenile GLC1A glaucoma, a P450 gene for GLC3A congenital glaucoma, and a bicoidhomeobox transcription factor gene RIEG for developmental glaucoma. The cloning of TIGR as a candidate gene for glaucoma is based on its distinctive induction in human trabecular meshwork cells and tissues, its induction profile, and the expressed molecule's putative biologic properties. Results from several laboratories showing defects in the olfactomedin homology domain of the TIGR gene have generated particular interest concerning potential pathogenic mechanisms. Recent progress in glaucoma genetics has also included the identification of new loci in familial adult open-angle glaucoma, the identification of a locus associated with pigment dispersion syndrome, and the collection of new families for linkage analyses and clinical assessments. Taken together, these findings offer future prospects for improving diagnostic criteria, for understanding disease etiologies, and for developing improved therapeutic strategies.
authors.affiliation: Department of Ophthalmology, University of California Medical Center, San Francisco 94143-0730, USA.
authors.forename: J R
authors.initials: JR
authors.lastname: Polansky
authors.forename: T D
authors.initials: TD
authors.lastname: Nguyen
mesh_terms: D000293:Adolescent; D000328:Adult; D001189:Aryl Hydrocarbon Hydroxylases; D003001:Cloning, Molecular; D065633:Cytochrome P-450 CYP1B1; D003577:Cytochrome P-450 Enzyme System / Q000235:genetics; D003598:Cytoskeletal Proteins; D005136:Eye Proteins / Q000235:genetics*; D008040:Genetic Linkage; D005902:Glaucoma, Open-Angle / Q000151:congenital / Q000235:genetics* / Q000473:pathology; D006023:Glycoproteins / Q000235:genetics*; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D016350:Leucine Zippers / Q000235:genetics*; D009687:Nuclear Proteins; D051761:Paired Box Transcription Factors; D014129:Trabecular Meshwork / Q000473:pathology; D014157:Transcription Factors / Q000235:genetics; D000097577:Homeobox Protein PITX2; D000099179:Myocilin