disease 840 words KG: ent-dise-bec6decc 2026-03-24
kind:diseasesection:diseasesstate:published
Contents

Leber's Hereditary Optic Neuropathy (LHON)

Disease Info
Prevalence1 in 30,000–50,000 people[1]
InheritanceMaternal (mitochondrial) inheritance — only females transmit the mutation
Age of onsetTypically 15–35 years (range 4–80 years)
Sex bias80–90% of affected individuals are male[1]
Chronic phaseStabilization 4–6 months after onset
Recovery phase10–20% of patients experience some spontaneous visual improvement, particularly with the m.14484T>C mutation
PrimaryDegeneration of retinal ganglion cell layer
SecondaryOptic nerve atrophy, particularly in the temporal portion
Visual acuityOften 20/200 or worse
Visual field testingCentral or centrocecal scotomas
DatabasesOMIMOrphanetClinicalTrialsPubMed

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