Leber hereditary optic neuropathy (LHON)
A disease entity that most commonly affects young men in their teens and early twenties and causes significantly decreased central vision in both eyes. The genes that cause LHON are carried on small circular mitochondrial DNA molecules that are inherited from an individuals mother. This condition is extremely rare (affecting fewer than 1 per million people per year) and does not affect everyone who harbors the genetic defect. The visual field defects in LHON are typically cecocentral scotomas. There are three other eye diseases named after Theodore Leber: 1) Leber congenital amaurosis (blindness at birth) inherited in an autosomal recessive fashion, 2) Leber’s stellate neuroretinopathy (a non-heritable condition associated with cat scratch disease) and 3) Leber’s military aneurysms (a non-heritable vascular malformation of the retina similar to Coat’s disease).
Related Links
Leber hereditary optic neuropathy – Genetics Home Reference – NIH
Leber Hereditary Optic Neuropathy (LHON)
Leber’s hereditary optic neuropathy
Leber Hereditary Optic Neuropathy. Causes and diagnosis — ICR
[Full text] Leber hereditary optic neuropathy: current perspectives — OPTH
Leber’s Hereditary Optic Neuropathy: Causes, Symptoms, Treatment — Santhera Switzerland
Mitochondrial replacement in an iPSC model of Leber Hereditary Optic Neuropathy. — bioRxiv
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Genetic Metabolic Basis of LHON - Doug Wallace PhD
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