The TIGR gene, pathogenic mechanisms, and other recent advances in glaucoma genetics

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 glauco...

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Bibliographic Details
Published inCurrent opinion in ophthalmology Vol. 9; no. 2; p. 15
Main Authors Polansky, J R, Nguyen, T D
Format Journal Article
LanguageEnglish
Published United States 01.04.1998
Subjects
Adolescent
Adult
Aryl Hydrocarbon Hydroxylases
Cloning, Molecular
Cytochrome P-450 CYP1B1
Cytochrome P-450 Enzyme System - genetics
Cytoskeletal Proteins
Eye Proteins - genetics
Genetic Linkage
Glaucoma, Open-Angle - congenital
Glaucoma, Open-Angle - genetics
Glaucoma, Open-Angle - pathology
Glycoproteins - genetics
Homeobox Protein PITX2
Homeodomain Proteins - genetics
Humans
Leucine Zippers - genetics
Nuclear Proteins
Paired Box Transcription Factors
Trabecular Meshwork - pathology
Transcription Factors - genetics
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Summary: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.
ISSN:1040-8738
DOI:10.1097/00055735-199804000-00004