A novel mutation in the GLC1A gene causes juvenile open-angle glaucoma in 4 families from the Italian region of Puglia.
Open Access
- 1 June 1998
- journal article
- ophthalmic molecular-genetics
- Published by American Medical Association (AMA) in Archives of Ophthalmology (1950)
- Vol. 116 (6) , 793-797
- https://doi.org/10.1001/archopht.116.6.793
Abstract
PRIMARY OPEN-ANGLE glaucoma (POAG; catalogued in Mendelian Inheritance in Man 137750) is one of the leading causes of irreversible blindness in developed countries despite efforts in its diagnosis and therapy.1 Primary open-angle glaucoma probably encompasses a complex of ocular diseases that have in common a normal-appearing angle of the anterior chamber. The disease causes in most patients a higher-than-normal intraocular pressure associated with a progressive degeneration of retinal ganglion cells, leading to atrophy and excavation of the head of the optic nerve and producing the well-known visual field defects. If left unchecked, it may lead to blindness.2Keywords
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