Sentences with phrase «optic atrophy»
Optic atrophy is a medical condition where the nerve that connects the eye to the brain, called the optic nerve, gets damaged or becomes weak. This can cause a loss of vision or make the vision blurry. Full definition
Following a Forward Genetics approach, Fleming researchers identified a novel neurological mouse model caused by a functional mutation in the Slc25a46 gene, a new pathogenic target in a wide spectrum of human neurological diseases, including optic atrophy, Charcot - Marie - Tooth type 2, Leigh syndrome, progressive myoclonic ataxia and lethal congenital pontocerebellar hypoplasia.
fleming.gr
My 22 year old son was just dx with autosomal dominant optic atrophy pending genetic testing.
However, the clinical symptoms of Wolfram syndrome, which include deafness, optic atrophy and psychiatric disorders, resemble those of mitochondrial diseases, suggesting a strong mitochondrial involvement.