Article
Long-term screening for primary mitochondrial DNA variants associated with Leber hereditary optic neuropathy: incidence, penetrance and clinical features.
Mitochondrion - 1 Sept 2020
Marotta Rosetta, Chin Judy, Chiotis Maria, Shuey Neil, Collins Steven J
Abstract excerpt
Leber hereditary optic neuropathy (LHON) is a neurodegenerative disorder characterised by bilateral, painless, subacute, central vision loss caused by pathogenic sequence variants in mitochondrial DNA (mtDNA). Over the course of 20 years, 734 people were systematically screened by our diagnostic...
Topics
- Adolescent
- Adult
- Case-Control Studies
- DNA, Mitochondrial
- Female
- Genetic Predisposition to Disease
- Humans
- Incidence
- Male
- Middle Aged
- Mutation Rate
- NADH Dehydrogenase
- Optic Atrophy, Hereditary, Leber
- Pedigree
- Penetrance
- Polymorphism, Single Nucleotide