A Female Patient with Down Syndrome and Low-Penetrance Leber's Hereditary Optic Neuropathy

Efficient mitochondrial biogenesis drives incomplete penetrance in Leber’s hereditary optic neuropathy

Leber's hereditary optic neuropathy is a maternally inherited blinding disease caused as a result of homoplasmic point mutations in complex I subunit genes of mitochondrial DNA. It is characterized by incomplete penetrance, as only some mutation carriers become affected. Thus, the mitochondrial DNA mutation is necessary but not sufficient to cause optic neuropathy. Environmental triggers and ge...

Leber's Hereditary Optic Neuropathy-Specific Mutation m.11778G>A Exists on Diverse Mitochondrial Haplogroups in India.

Purpose Leber's hereditary optic neuropathy (LHON; OMIM 535000) is one of the most common maternally inherited mitochondrial disorders. Three mitochondrial DNA point mutations-m.3460G>A (MT-ND1), m.11778G>A (MT-ND4), and m.14484T>C (MT-ND6)-account for the majority of reported LHON cases. Only approximately 50% of males and approximately 10% of females carrying these mutations develop optic neu...

Leber's Hereditary Optic Neuropathy-Gene Therapy: From Benchtop to Bedside

Leber's hereditary optic neuropathy (LHON) is a maternally transmitted disorder caused by point mutations in mitochondrial DNA (mtDNA). Most cases are due to mutations in genes encoding subunits of the NADH-ubiquinone oxidoreductase that is Complex I of the electron transport chain (ETC). These mutations are located at nucleotide positions 3460, 11778, or 14484 in the mitochondrial genome. The ...

Leber's Hereditary Optic Neuropathy, Normal Tension Glaucoma, and Flammer Syndrome: Long Term Follow-up of a Patient.

Leber's hereditary optic neuropathy--case report and literature review.

CONTEXT Leber's hereditary optic neuropathy is an important cause of progressive painless visual loss among young male patients. OBJECTIVE To report on a case of a young patient with a clinical and neurophysiological condition suggestive of Leber's hereditary optic neuropathy, confirmed by genetic testing. CASE REPORT We describe a 17-year-old male with progressive bilateral visual loss. Tw...