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Diseases

Genetic and Rare Diseases Information Center (GARD)

Leber hereditary optic neuropathy


Other Names for this Disease
  • Leber’s disease
  • Optic atrophy, Leber type
  • Leber optic atrophy
  • LHON
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Symptoms

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What are the signs and symptoms of Leber hereditary optic neuropathy?

Leber hereditary optic neuropathy (LHON) is characterized by bilateral, painless, and almost sudden vision failure that develops in young adulthood (around 20 to 30 years of age). About 95% of affected people lose their vision before age 50. It is more common in males. Signs and symptoms include:[1][2]
  • Blurring and clouding of vision (usually the first symptoms) affecting the central visual field
  • Severe loss of visual acuity (sharpness of vision) and color vision over time
  • Loss of ability to complete visual tasks such as reading, driving, and recognizing faces
  • A growing, dense central scotoma (blind spot) seen during visual field testing
  • Development of optic atrophy
Most people with LHON eventually qualify for registration as legally blind.[2]

In rare cases, additional symptoms may include heart arrhythmias; neurologic abnormalities (e.g., tremor, peripheral neuropathy, movement disorders); and features similar to those seen in multiple sclerosis.[1][2]

A significant proportion of people with a mutation known to cause LHON do not develop any features. Specifically, more than 50% of males with a mutation and more than 85% of females with a mutation never experience vision loss or related medical problems.[1]
Last updated: 6/14/2016

The Human Phenotype Ontology provides the following list of signs and symptoms for Leber hereditary optic neuropathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Optic neuropathy 33%
Arrhythmia -
Ataxia -
Central retinal vessel vascular tortuosity -
Centrocecal scotoma -
Dystonia -
Heterogeneous -
Incomplete penetrance -
Leber optic atrophy -
Mitochondrial inheritance -
Myopathy -
Optic atrophy -
Polyneuropathy -
Postural tremor -
Visual loss -

Last updated: 7/1/2016

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. Leber hereditary optic neuropathy. Genetics Home Reference (GHR). 2013; http://ghr.nlm.nih.gov/condition/leber-hereditary-optic-neuropathy.
  2. Patrick Yu-Wai-Man, Patrick F Chinnery. Leber Hereditary Optic Neuropathy. GeneReviews. June 23, 2016; http://www.ncbi.nlm.nih.gov/books/NBK1174/.


Other Names for this Disease
  • Leber’s disease
  • Optic atrophy, Leber type
  • Leber optic atrophy
  • LHON
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.