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Elevated intraocular pressure (IOP) is a major risk factor for glaucoma and is influenced by genetic and environmental factors. Recent genome-wide association studies (GWAS) reported associations with IOP at TMCO1 and GAS7, and with primary open-angle glaucoma (POAG) at CDKN2B-AS1, CAV1/CAV2, and SIX1/SIX6. To identify novel genetic variants and replicate(More)
Optic nerve degeneration caused by glaucoma is a leading cause of blindness worldwide. Patients affected by the normal-pressure form of glaucoma are more likely to harbor risk alleles for glaucoma-related optic nerve disease. We have performed a meta-analysis of two independent genome-wide association studies for primary open angle glaucoma (POAG) followed(More)
To determine the yield of brain biopsy and the predictive value of clinical features and ancillary studies, we retrospectively analyzed hospital chart data from 61 consecutive patients suspected of having primary angiitis of the CNS (PACNS). Biopsies disclosed PACNS in 22 (36%), alternative diagnoses in 24 (39%), and no diagnosis in 15 (25%). Clinical(More)
BACKGROUND The relationship between the circumstances and severity of closed head injury (CHI) and the clinical and imaging features of cranial nerve 3, 4, and 6 palsies has not been rigorously addressed in a large study. METHODS Retrospective chart review of 210 consecutive patients with CHI examined at a single tertiary care center from 1987 to 2002.(More)
PURPOSE To measure and contrast 2 biomarkers of cardiovascular disease, C-reactive protein (CRP) and plasma homocysteine, in individuals with age-related macular degeneration (AMD) and control individuals without AMD. DESIGN Case-control study. PARTICIPANTS Seventy-nine affected individuals and 77 unaffected individuals from the AMD Genetic Study Group(More)
PURPOSE Previous in vitro studies with transgenic and gene-knockout mice have shown that lenses with elevated levels of glutathione peroxidase (GPX)-1 activity are able to resist the cytotoxic effect of H(2)O(2), compared with normal lenses and lenses from GPX-1-deficient animals. The purpose of this study was to investigate the functional role of this(More)
PURPOSE To compare drivers and nondrivers, and to describe the specific concerns of drivers, among individuals with glaucoma. METHODS Six hundred seven patients with newly diagnosed glaucoma treated at 14 clinical centers of the Collaborative Initial Glaucoma Treatment Study were randomly assigned to initial medicine or surgery and were followed up every(More)
PURPOSE To compare the baseline Collaborative Initial Glaucoma Treatment Study (CIGTS) visual field (VF) score and mean deviation (MD), investigate test-retest variability, and identify variables associated with VF loss and VF measurement variability. METHODS Baseline data from a randomized clinical trial of 607 patients with newly diagnosed open-angle(More)
Facial appearance is influenced by the anatomic relationship of the eyebrow and eyelid, and surgical procedures on these structures attempt to restore or preserve not only symmetry but also normal appearance. To provide useful benchmarks for such interventions, we measured the eyebrow height, upper eyelid crease height, and amount of visible pretarsal skin(More)
PURPOSE To develop and characterize a heterozygous knock-in mouse model carrying the 5-bp deletion in Elovl4 (E_mut+/-) and to study the pathology underlying Stargardt-like macular degeneration (STGD3). METHODS E_mut+/- mice were generated by targeting a 5-bp deletion (AACTT) in the Elovl4 gene by homologous recombination. E_mut+/- mice of age 2 to 18(More)