This Article  • Full text  • PDF  • Reply to article  • Send to a friend  • Save in My Folder  • Save to citation manager  • Permissions  Citing Articles  • Citation map  • Citing articles on HighWire  • Citing articles on ISI (19)  • Contact me when this article is cited  Related Content  • Similar articles in this journal  Topic Collections  • Glaucoma  • Articles for Residents  • Genetics  • Genetic Counseling/ Testing/ Therapy  • Alert me on articles by topic  Social Bookmarking   What's this?

A TIGR by the Tail?

Douglas H. Johnson, MD

Arch Ophthalmol. 2000;118:974-978.

ABSTRACT
In 1997, Stone and 14 colleagues from 7 laboratories reported the identification of a gene (TIGR) associated with juvenile open-angle glaucoma (JOAG). Screening of adults with primary open-angle glaucoma (POAG) revealed that about 4% also carried a mutation of the coding region of this gene. The mutations were found through genetic linkage analysis of families with JOAG. Juvenile open-angle glaucoma was a logical starting point in the search for genetic causes of open-angle glaucoma: it shows a strong autosomal-dominant inheritance pattern, occurs at an early age, demonstrates obvious phenotypic signs (dramatic elevation of intraocular pressure and subsequent optic nerve damage), and is likely to be found in multiple generations as parents of affected children are still living. These factors, however, also serve to distinguish it from adult-onset POAG, which generally has a lower intraocular pressure and a less severe course. The discovery of the actual gene represented a true advance over previous studies that had mapped the gene to a segment of a chromosome but did not identify the specific gene. How the mutant gene causes glaucoma is unknown and is the subject of intense research. To date, 26 mutations in the TIGR gene sequence (the term TIGR has been replaced by the term myocilin, abbreviated MYOC) have been described, all associated with either JOAG or adult-onset POAG. A correlation between specific mutations in MYOC and the clinical course of glaucoma has been found. Not all cases of JOAG or POAG have mutations in the MYOC gene, however, indicating that more discoveries of other genes are yet to come.

From the Mayo Clinic, Rochester, Minn.

CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati     What's this?

THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES

The Primary open-angle glaucoma gene WDR36 functions in ribosomal RNA processing and interacts with the p53 stress-response pathway
Skarie and Link
Hum Mol Genet 2008;17:2474-2485.
ABSTRACT | FULL TEXT  

Distribution of Myocilin and Extracellular Matrix Components in the Juxtacanalicular Tissue of Human Eyes
Ueda et al.
IOVS 2002;43:1068-1076.
ABSTRACT | FULL TEXT  

Protein Interactions with Myocilin
Wentz-Hunter et al.
IOVS 2002;43:176-182.
ABSTRACT | FULL TEXT  

Reduced TIGR/Myocilin Protein in the Monkey Ciliary Muscle after Topical Prostaglandin F2{{alpha}} Treatment
Lindsey et al.
IOVS 2001;42:1781-1786.
ABSTRACT | FULL TEXT