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Autosomal dominant optic atrophy, hearing loss, and peripheral neuropathy
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Overview
Autosomal dominant optic atrophy, hearing loss, and peripheral neuropathy is a neurological condition first described by Hagemoser et al. in 1989 in two unrelated families. This condition is characterized by the development of bilateral hearing loss and visual impairment with optic atrophy during childhood. Some individuals go on to develop neurological features involving the lower limbs in the adult years. Inheritance appears to be autosomal dominant.[1]
References
- Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Dominant. Online Mendelian Inheritance in Man (OMIM). http://omim.org/entry/165199. Accessed November 26, 2012.
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General Information
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Autosomal dominant optic atrophy, hearing loss, and peripheral neuropathy. Click on the link to view a sample search on this topic.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Autosomal dominant optic atrophy, hearing loss, and peripheral neuropathy. Click on the link to go to OMIM and review these resources.