pediatrics
Mitochondrial Oxidative Phosphorylation Disorders
Leber hereditary optic neuropathy (LHON)
LHON is characterized by acute or subacute bilateral central vision loss caused by retinal degeneration. Onset usually occurs in the patient’s 20s or 30s but can occur from childhood to adulthood. Male:female ratio is 4:1. Many mitochondrial DNA mutations have been defined, but 3 common ones account for 90% of cases. LHON pedigrees usually show a pattern of maternal inheritance typical of mitochondrial disorders that involve mutations of mtDNA. Intravitreal gene therapy has shown very promising results in early clinical trials. 