Article
On the many faces of Leber hereditary optic neuropathy.
Clinical genetics - 1 Jun 1997
Oostra R J, Tijmes N T, Cobben J M, Bolhuis P A, van Nesselrooij B P, Houtman W A, de Kok-Nazaruk M M, Bleeker-Wagemakers E M
Abstract excerpt
Leber hereditary optic neuropathy (LHON) is a maternally inherited disorder, associated with mutations in the mitochondrial DNA, which is notorious for its aspecific presentations. Two pedigrees are described with cases that are atypical for LHON with respect to sex, age of onset, interval betwee...
Topics
- Age of Onset
- Child
- Child, Preschool
- DNA, Mitochondrial
- Evoked Potentials, Visual
- Female
- Humans
- Infant, Newborn
- Male
- Middle Aged
- Mutation
- Optic Atrophies, Hereditary
- Optic Atrophy
- Pedigree