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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(More)
Glaucoma is a major cause of blindness and is characterized by progressive degeneration of the optic nerve and is usually associated with elevated intraocular pressure. Analyses of sequence tagged site (STS) content and haplotype sharing between families affected with chromosome 1q-linked open angle glaucoma (GLC1A) were used to prioritize candidate genes(More)
A glaucoma locus, GLC1A, was identified previously on chromosome 1q. A gene within this locus (encoding the protein myocilin) subsequently was shown to harbor mutations in 2-4% of primary open angle glaucoma patients. A total of 1703 patients was screened from five different populations representing three racial groups. There were 1284 patients from(More)
Glaucoma is a leading cause of blindness in virtually every country. Development of an accurate diagnostic test for presymptomatic detection of individuals at risk is an urgent requisition for this condition. Herein, we report mapping of a new adult-onset primary open-angle glaucoma (POAG) locus on 5q22.1 (GLC1G) and identification of its defective gene.(More)
PURPOSE To develop a quantitative measure of local damage to the ganglion cells/optic nerve based on an interocular comparison of multifocal visual evoked potentials (mVEP). METHODS Multifocal VEPs were recorded from both eyes of six normal subjects and four patients; each eye was stimulated separately. Two of the patients had glaucoma, one had ischemic(More)
There is a growing body of evidence that early glaucomatous damage involves the macula. The anatomical basis of this damage can be studied using frequency domain optical coherence tomography (fdOCT), by which the local thickness of the retinal nerve fiber layer (RNFL) and local retinal ganglion cell plus inner plexiform (RGC+) layer can be measured. Based(More)
Exfoliation (pseudoexfoliation; PEX) syndrome is the single most common identifiable cause of open-angle glaucoma, however, very few investigators are engaged in basic research on this disease. To stimulate the field, the First International Think Tank on Exfoliation Syndrome was held in New York in July 1999, comprising clinicians and scientists. This(More)
PURPOSE To evaluate genetic susceptibility of lysyl oxidase-like 1 (LOXL1) gene polymorphisms to exfoliation syndrome (XFS) and exfoliation glaucoma (XFG) in a case-control cohort of American and European patients. METHODS DNA from a total of 620 individuals including 287 exfoliation patients and 333 healthy control subjects were extracted by standard(More)
OBJECTIVE To develop a brief symptom survey specific for persons with glaucoma, the Glaucoma Symptom Scale (GSS). DESIGN Cross-sectional study of symptoms, functional impairment, and vision-targeted health-related quality of life among persons with glaucoma. PATIENTS A sample of 147 persons with glaucoma among a broad range of treatment categories from(More)
Genetic linkage, genome mismatch scanning, and analysis of patients with alterations of chromosome 6 have indicated that a major locus for development of the anterior segment of the eye, IRID1, is located at 6p25. Abnormalities of this locus lead to glaucoma. FKHL7 (also called "FREAC3"), a member of the forkhead/winged-helix transcription-factor family,(More)