Search results for "Optic Nerve Disease"

New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics

2017

Item does not contain fulltext Primary open-angle glaucoma (POAG), the most common optic neuropathy, is a heritable disease. Siblings of POAG cases have a ten-fold increased risk of developing the disease. Intraocular pressure (IOP) and optic nerve head characteristics are used clinically to predict POAG risk. We conducted a genome-wide association meta-analysis of IOP and optic disc parameters and validated our findings in multiple sets of POAG cases and controls. Using imputation to the 1000 genomes (1000G) reference set, we identified 9 new genomic regions associated with vertical cup-disc ratio (VCDR) and 1 new region associated with IOP. Additionally, we found 5 novel loci for optic ne…

Ocular Changes in Patients With Mucopolysaccharidosis I Receiving Enzyme Replacement Therapy

2007

Objective To describe the progression of ocular changes in patients with mucopolysaccharidosis I receiving enzyme replacement therapy. Methods Three male and five female patients with mucopolysaccharidosis I were followed up for 4 years while undergoing enzyme replacement therapy with α-L-iduronidase (Aldurazyme). Visual acuity, corneal clouding, intraocular pressure, ophthalmoscopy, and optic disc measurements were performed yearly. Results Vision remained stable in 5 patients and deteriorated by at least 2 Snellen lines in 3 patients. Deterioration in 2 of these patients was related to progressive corneal clouding. Visual acuities improved in 1 patient after bilateral penetrating keratopl…

Optic nerve decompression in trauma and tumor patients

1999

Optic nerve decompression is a procedure that is now receiving increasing clinical attention. However, there are currently no standardized treatment protocols in the therapy of traumatic or pressure insults to the nerve. The present retrospective study was designed to report our experience with microscopic endonasal transethmoid-sphenoid optic nerve decompression in 24 unilateral trauma cases and 11 unilateral skull base tumor patients. In general preoperative visual acuities in the trauma patients were worse than in the tumor patients. Following surgery, 9 of 11 tumor patients (82%) had at least some improvement of their vision, including 5 complete recoveries. In the group with traumatic …

Multichannel functional testing in normal subjects, glaucoma suspects, and glaucoma patients

2012

Purpose.: To evaluate visual function with a novel multichannel functional test named the ATD Multichannel Functional Test. Methods.: This multicenter study had a prospective and cross-sectional design. A total of 186 eyes were included: 42 with glaucoma, 14 glaucoma suspects due to optic nerve characteristics, 25 ocular hypertensives, and 105 normal eyes. All patients performed standard visual fields (Humphrey 24-2) and ATD with eight stimuli configurations: four achromatic (A), two red-green (T), and two blue-yellow (D). To derive main outcome measures, mean sensitivity, mean defect (MD), and pattern standard deviation (PSD) were calculated and compared among groups and types of stimuli w…

Subclinical optic neuropathy in Fabry disease.

2009

Fabry disease is a rare X-linked lysosomal storage disorder, caused by the deficiency of alpha-galactosidase A. Ophthalmic features comprise a cornea verticillata, conjunctival aneurysms, tortuous conjunctival and/or retinal vessels, and anterior and posterior subcapsular cataracts. The issue of a possible subclinical optic neuropathy in Fabry disease has been raised recently. In this pilot study, we looked for signs of optic neuropathy in our cohort of Fabry patients.Thirty-one Fabry patients (15 male, 16 female, mean age 34 years) underwent an ophthalmological investigation consisting of assessment of best corrected visual acuity, slit lamp investigation, testing of pupillary reaction, fu…

Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology

2015

Primary open-angle glaucoma is the most common optic neuropathy and an important cause of irreversible blindness worldwide. The optic nerve head or optic disc is divided in two parts: a central cup (without nerve fibers) surrounded by the neuroretinal rim (containing axons of the retinal ganglion cells). The International Glaucoma Genetics Consortium conducted a meta-analysis of genome-wide association studies consisting of 17,248 individuals of European ancestry and 6,841 individuals of Asian ancestry. The outcomes of the genome-wide association studies were disc area and cup area. These specific measurements describe optic nerve morphology in another way than the vertical cup-disc ratio, …

Agreement among 3 optical imaging methods for the assessment of optic disc topography.

2005

Purpose To assess the agreement of disc topography measurements between the Heidelberg Retina Tomograph (HRT II), Retinal Thickness Analyzer (RTA), and Optical Coherence Tomograph (StratusOCT). Design Observational cross-sectional study. Participants Forty-two randomly chosen eyes of 42 subjects. Methods Each subject underwent HRT II, RTA, and StratusOCT examination. Two experienced examiners drew the contour lines for the HRT II and RTA. Bland and Altman plots were used to evaluate agreement for each topographic parameter among the instruments. The Spearman coefficient of rank correlation was evaluated for each topographic parameter. Main Outcome Measures Agreement in the measurement of op…

Tilted discs and central retinal vein occlusion.

1993

Deletion of myosin VI causes slow retinal optic neuropathy and age-related macular degeneration (AMD)-relevant retinal phenotype

2015

The unconventional myosin VI, a member of the actin-based motor protein family of myosins, is expressed in the retina. Its deletion was previously shown to reduce amplitudes of the a- and b-waves of the electroretinogram. Analyzing wild-type and myosin VI-deficient Snell’s Waltzer mice in more detail, the expression pattern of myosin VI in retinal pigment epithelium, outer limiting membrane, and outer plexiform layer could be linked with differential progressing ocular deficits. These encompassed reduced a-waves and b-waves and disturbed oscillatory potentials in the electroretinogram, photoreceptor cell death, retinal microglia infiltration, and formation of basal laminar deposits. A pheno…

The Heidelberg retina tomograph ancillary study to the European glaucoma prevention study: study design and baseline factors.

2013

Purpose: To describe the study design and baseline factors of the Heidelberg Retina Tomograph ancillary study within the EGPS. Furthermore, to examine the relationship between HRT optic disc topographic measurements and baseline demographic and ocular factors. Methods: Four hundred and eighty-nine ocular hypertensive participants were included. Each participant completed HRT imaging at least annually. The associations between HRT measurements and IOP, central corneal thickness (CCT), baseline photographic estimates of vertical CDR ratio (CDR), asymmetry between the two eyes in CDR ratio and baseline visual field indices were assessed using regression analysis. Results: Associations between …