Selected Publications:
"Adult-Onset Primary Open-Angle Glaucoma Caused by Mutations in Optineurin," Science, February 8, 2002 - (full article) (abstract - only)
"Molecular Genetics of Primary Congenital Glaucoma," Eye, June 14, 2000

On Line Resources:
National Eye Institute
International Glaucoma Association
General Clinical Research Center at the University of Connecticut Health Center

Mansoor Sarfarazi, Ph.D.
University of Connecticut Health Center
Molecular Ophthalmic Genetics Lab
263 Farmington Avenue
Farmington, Connecticut 06030-1110
P: 860-679-3629
F: 860-679-7524
Mansoor@Neuron.uchc.edu

Main UConn Health Center Home Page, http://www.uchc.edu

For website corrections or questions - please contact Michonski@uchc.edu

The Molecular Ophthalmic Genetics Lab is studying the genetics of glaucoma. Specifically, research is being done on adult-onset primary open-angle glaucoma caused by mutations in optineurin.

Primary open-angle glaucoma (POAG) affects 33 million individuals worldwide and is a leading cause of blindness. In a study of 54 families with autosomal dominantly inherited adult-onset POAG, we identified the causative gene on chromosome 10p14 and designated it OPTN (for "optineurin"). Sequence alterations in OPTN were found in 16.7% of families with hereditary POAG, including individuals with normal intraocular pressure. The OPTN gene codes for a conserved 66-kilodalton protein of unknown function that has been implicated in the tumor necrosis factor-alpha signaling pathway and that interacts with diverse proteins including Huntingtin, Ras-associated protein RAB8, and transcription factor IIIA. Optineurin is expressed in trabecular meshwork, non-pigmented ciliary epithelium, retina, and brain, and we speculate that it plays a neuroprotective role.