Also known as

  • Leber Hereditary Optic Neuropathy
  • Leber Optic Neuropathy LHON Plus

Associated with several Mitochondrial Genes (MtDNA). Causes severe loss of central vision, sometimes with more widespread Multiple Sclerosis-like symptoms (LHON Plus). Can occur at any age, and can affect females as well as males.

Condition details

LHON typically presents as painless loss of central vision in one eye, with the other eye being affected within a few weeks. After this ACUTE period of eyesight deterioration sight tends to stabilize Most patients are male aged late teens to early thirties. However LHON is very varied. Male to Female patient ratio is about 9:1, and eyesight loss has been reported in young children and patients over 70. Some patients report a range of Multiple Sclerosis like symptoms affecting muscles known as LHON Plus. LHON is estimated to affect from 1:30,000 to 1:50,000 people.

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Photos of affected individuals

Click images to enlarge.

  • No baby imageBaby
  • No toddler imageToddler
  • No child 4-10 imageChild 4-10
  • No child 10-18 imageChild 10-18
  • No adult imageAdult

Typical age range of first manifestation

  • Does not manifest in Baby
  • Does not manifest in Toddler
  • Does not manifest in Child 4-10
  • Does not manifest in Child 10-18
  • Can manifest in Adult


Lay terms Clinical terms
  • Severe painless loss of central vision
  • Bilateral Central Scotomas on visual field asssesment Pale optic discs on Fundus examination

Affected genes identified to date

  • 90% of known cases are one of the three "primary" gene mutations m.3460G>A m.11778G>A m.14484T>C

Inheritance patterns

Is X-linked

This is Mitochondrial Inheritance, however some researchers believe that the incomplete penetrance may be due to a second, X-Linked or Autosomal gene.

Are carriers affected?


How many are affected?

Between 1:30,000 and 1:50,000

Support groups and organisations


Known experts

Dr Patrick Yu_Wai_Man
Field of interestMitochondrial Genetics
Wellcome Trust Centre for Mitochondrial Research
Institute of Genetic Medicine
Newcastle University International Centre for Life
Central Parkway
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