Variants
Sign InSign Up

Leber optic atrophy

Your Results

Sign In

Description

Leber hereditary optic neuropathy (LHON) typically presents in young adults as bilateral, painless, subacute visual failure. The peak age of onset in LHON is in the second and third decades of life, with 90% of those who lose their vision doing so before age 50 years. Very rarely, individuals first manifest LHON in the seventh and eighth decades of life. Males are four to five times more likely to be affected than females, but neither gender nor mutational status significantly influences the timing and severity of the initial visual loss. Neurologic abnormalities such as postural tremor, peripheral neuropathy, nonspecific myopathy, and movement disorders have been reported to be more common in individuals with LHON than in the general population. Some individuals with LHON, usually women, may also develop a multiple sclerosis-like illness.

GeneReviews

  • Mode of Inheritance

  • Heterogeneous
  • Mitochondrial inheritance

VARIANTS

60

SEE THE VARIANTS →

Genes

External Links

  • OMIM

    535000

  • Orphanet

    104

  • HPO

    874

  • Medgen

    C0917796

© 2024 Biocodify. All rights reserved.

TwitterTwitter

Product

HomePricingDashboard

Stay up to date

The latest news and updates from Biocodify, sent to your inbox.