PURPOSE To evaluate recent molecular genetic studies focused on localizing and identifying the genes involved in adult-onset primary glaucoma, characterizing the gene products, and investigating the molecular mechanisms implicated in the pathophysiology of the disease. METHODS Several studies have aimed at understanding gene expression and protein processing and attempting to correlate the mu...

Email: [email protected] Abstract: Primary Open-Angle Glaucoma (POAG), an optic neuropathy that is a leading cause of irreversible blindness, has been studied extensively in hopes of better understanding its underlying mechanism. Glucocorticoids (GC) are commonly used to treat inflammatory ocular conditions but are also known to increase the risk of glaucoma by raising Intraocular Pressure ...

Glaucoma is the second most frequent cause of irreversible blindness worldwide. Genetic factors have been implicated in the development of the disease. So far six loci (GLC1A-GLC1F) and two genes (TIGR/MYOC and OPTN) are involved in the development of juvenile (JOAG) and adult onset or chronic primary open angle glaucoma (COAG), while two loci (GLC3A,GLC3B) and one gene (CYP1B1) are known for p...

OBJECTIVE To determine if a patient with an interstitial deletion of chromosome 1 is hemizygous for the TIGR/MYOC gene and if that patient has glaucoma. METHODS A patient with an interstitial deletion of chromosome 1 was clinically examined for evidence of glaucoma. DNA samples from the patient and her family were used for molecular studies to determine the boundaries of the chromosome 1 dele...

There is evidence of the central regulation of intraocular pressure, and it has been suggested that vagal tone might be increased in glaucoma simplex. The nasal cycle, the simultaneous congestion-decongestion response in the nasal cavities, reflects the dynamic lateralisation of the autonomic nervous system. Since this lateralisation presents with sympathetic activity induced by left brain hemi...

PURPOSE To identify myocilin (MYOC) and cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1) mutations in a Spanish population with different clinical forms of familial glaucoma or ocular hypertension (OHT). METHODS Index patients from 226 families participated in this study. Patients were diagnosed with familial glaucoma or OHT by complete ophthalmologic examination. Screening for ...

Copyright © 2009 Massachusetts Medical Society. Glaucoma is a chronic, degenerative optic neuropathy that can be distinguished from most other forms of acquired optic neuropathy by the characteristic appearance of the optic nerve. In glaucoma, the neuroretinal rim of the optic nerve becomes progressively thinner, thereby enlarging the optic-nerve cup. This phenomenon is referred to as optic-ner...

Glaucoma is a progressive blinding disease characterized by gradual loss of vision due to optic neuropathy and retinal ganglion cell death. Increased intraocular pressure is a common feature of glaucoma that is thought to arise from an increased resistance to outflow of aqueous humor through the trabecular meshwork. Mutations of the myocilin gene are one cause of autosomal dominant juvenile- an...

The availability of the human genome sequence together with sequenced genomes of several model organisms provides an unprecedented opportunity to utilize comparative genomic approaches for the discovery of genes that contribute to human disease. We have used transgenic flies to establish an experimental paradigm for the discovery of genes that might be involved in the development of glaucoma, a...