Dominant hereditary optic atrophy

Common Name(s)

Dominant hereditary optic atrophy

Autosomal dominant optic atrophy is characterized by an insidious onset of visual impairment in early childhood with moderate to severe loss of visual acuity, temporal optic disc pallor, color vision deficits, and centrocecal scotoma of variable density ({36:Votruba et al., 1998}). Some patients with mutations in the OPA1 gene may also develop extraocular neurologic features, such as deafness, progressive external ophthalmoplegia, muscle cramps, hyperreflexia, and ataxia; see {125250}. There appears to be a wide range of intermediate phenotypes ({41:Yu-Wai-Man et al., 2010}). {42:Yu-Wai-Man et al. (2009)} provided a detailed review of autosomal dominant optic atrophy and Leber hereditary optic neuropathy (LHON; {535000}), with emphasis on the selective vulnerability of retinal ganglion cells to mitochondrial dysfunction in both disorders. Genetic Heterogeneity of Optic Atrophy Optic atrophy-2 (OPA2; {311050}) maps to chromosome Xp11.4-p11.21. OPA3 ({165300}) is caused by mutation in the OPA3 gene ({606580}) on chromosome 19q13. OPA4 ({605293}) maps to chromosome 18q12.2-q12.3. OPA5 ({610708}) maps to chromosome 22q12.1-q13.1. OPA6 ({258500}) maps to chromosome 8q. OPA7 ({612989}) is caused by mutation in the TMEM126A gene ({612988}) on chromosome 11q14.
 

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Condition Specific Organizations

Following organizations serve the condition "Dominant hereditary optic atrophy" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Dominant hereditary optic atrophy" returned 2 free, full-text research articles on human participants. First 3 results:

Autosomal dominant optic atrophy with unilateral facial palsy: a new hereditary condition?
 

Author(s): A P Thomson, M Neugebauer, A Fryer

Journal: J. Med. Genet.. 1999 Mar;36(3):251-2.

 

A mother and daughter are reported with bilateral optic atrophy with onset in infancy and unilateral facial palsy. This appears to be a novel autosomal dominant disorder.

Last Updated: 11 Jun 1999

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Further studies supporting the identity of congenital tritanopia and hereditary dominant optic atrophy.
 

Author(s): A E Krill, V C Smith, J Pokorny

Journal: Invest Ophthalmol. 1971 Jun;10(6):457-65.

 

Last Updated: 15 Jul 1971

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Reviews from the PubMed Database

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The terms "Dominant hereditary optic atrophy" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Expression of Optic Atrophy Type 1 (OPA1) Protein in Lung Adenocarcinoma
 

Status: Recruiting

Condition Summary: Lung Adenocarcinoma

 

Last Updated: 26 Nov 2010

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