Autosomal dominant optic atrophy and cataract
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Description
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 67036
Definition
A form of autosomal dominant optic atrophy characterized by an early and bilateral optic atrophy leading to insidious visual loss of variable severity, followed by a late anterior and/or posterior cortical cataract. Additional features include sensorineural hearing loss and neurological signs such as tremor, extrapyramidal rigidity and absence of deep tendon reflexes. It is caused by mutations in the OPA3 gene (19q13.32).
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
Symptoms
Symptoms and their Known Frequencies
80%-99% of people have these symptoms.
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| Optic atrophy |
30%-79% of people have these symptoms.
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5%-29% of people have these symptoms.
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1%-4% of people have these symptoms.
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| Cataract |
| Delayed eruption of permanent teeth |
| Optic disc pallor |
| Hearing impairment |
| Scotoma |
An unknown % of people have these symptoms.
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