A nonsense mutation in the TMEM126A gene has been shown to be related to optic atrophy.
12.
Optic nerve involvement in Beh�et's disease is rare, typically presenting as progressive optic atrophy and visual loss.
13.
Manipulation of the optic atrophy 1 ( Opa1 ) gene had interesting effects on fusion between mitochondria.
14.
In the differential diagnosis, other macular dystrophies as well as the hereditary optic atrophies must be considered.
15.
When treated with vitamin, patients with Leber's disease may suffer serious optic atrophy, possibly leading to blindness.
16.
Other possible associations include corneal defects, congenital pulmonary stenosis, total anomalous pulmonary venous connection deafness and optic atrophy.
17.
Mutations in OPA1 also cause optic atrophy, which suggests a common role of mitochondrial fusion in neuronal dysfunction.
18.
Longstanding papilledema leads to optic atrophy, in which the disc looks pale and visual loss tends to be advanced.
19.
In the later onset form, patients typically have normal intellectual function, but present with spastic diplegia and optic atrophy.
20.
While the symptoms of CMT2A are variable they are characterized by a sometimes early onset, severe phenotype, and optic atrophy.
