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