Thursday, August 2, 2012
Elusive gene that causes a form of blindness discovered
Scientists have discovered an elusive human gene that causes a devastating form of early-onset blindness, a step they say will help develop sight saving gene therapy for retinal degeneration. Researchers from the Massachusetts Eye and Ear Infirmary, The Children’s Hospital of Philadelphia, Loyola University Chicago Health Sciences Division have isolated an elusive human gene called NMNAT1 that causes a common form of Leber congenital amaurosis (LCA). LCA is an inherited retinal degenerative disease characterised by reduced vision in infancy. Within the first few months of life, parents usually notice a lack of visual responsiveness and unusual roving eye movements known as nystagmus. LCA typically involves only vision problems, but can be accompanied by disease in other organ systems in a minority of patients. It is a common reason children are enrolled in schools for the blind.
posted by SCIENCE NEWS at 1:40 AM