Article
A Typical Case Presentation with Spontaneous Visual Recovery in Patient Diagnosed with Leber Hereditary Optic Neuropathy due to Rare Point Mutation in MT-ND4 Gene (m.11253T>C) and Literature Review.
Medicina (Kaunas, Lithuania) - 26 Feb 2021
Liutkeviciene Rasa, Sidaraite Agne, Kuliaviene Lina, Glebauskiene Brigita, Jurkute Neringa, Aluzaite-Baranauskiene Lina, Gelzinis Arvydas, Zemaitiene Reda
Abstract excerpt
Leber hereditary optic neuropathy (LHON) is one of the most common inherited mitochondrial optic neuropathies, caused by mitochondrial DNA (mtDNA) mutations. Three most common mutations, namely m.11778G>A, m.14484T>G and m.3460G>A, account for the majority of LHON cases. These mutations lead to mitochondrial respiratory chain complex I damage. Typically, LHON presents at the 15-35 years of age with male...
Topics
- DNA, Mitochondrial
- Humans
- Male
- Mitochondria
- Mutation
- Optic Atrophy, Hereditary, Leber
- Point Mutation