Autosomal dominant optic atrophy

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Prevalence (%) of clinical parameters based on data from 2 references describing 122 individuals

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Pubmed id number as a reference Organ system affected
Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
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List of symptoms

Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Optic atrophy nervous 100 % 20837821 2011-10-18
Optic atrophy nervous 86 % 20157015 2011-10-12
Hearing loss nervous 63 % 20157015 2011-10-12
Ophthalmoplegia nervous 46 % 20157015 2011-10-12
Myopathy skeletal 36 % 20157015 2011-10-12
Ataxia nervous 30 % 20157015 2011-10-12
Neuropathy nervous 30 % 20157015 2011-10-12

List of references:

Defective mitochondrial adenosine triphosphate production in skeletal muscle from patients with dominant optic atrophy due to OPA1 mutations.
Raffaele Lodi, Caterina Tonon, Maria Lucia Valentino, David Manners, Claudia Testa, Emil Malucelli, Chiara La Morgia, Piero Barboni, Michele Carbonelli, Simone Schimpf, Bernd Wissinger, Massimo Zeviani, Agostino Baruzzi, Rocco Liguori, Bruno Barbiroli, Valerio Carelli,

Archives of neurology - Jan 2011

Multi-system neurological disease is common in patients with OPA1 mutations.
P Yu-Wai-Man, P G Griffiths, G S Gorman, C M Lourenco, A F Wright, M Auer-Grumbach, A Toscano, O Musumeci, M L Valentino, L Caporali, C Lamperti, C M Tallaksen, P Duffey, J Miller, R G Whittaker, M R Baker, M J Jackson, M P Clarke, B Dhillon, B Czermin, J D Stewart, G Hudson, P Reynier, D Bonneau, W Marques, G Lenaers, R McFarland, R W Taylor, D M Turnbull, M Votruba, M Zeviani, V Carelli, L A Bindoff, R Horvath, P Amati-Bonneau, P F Chinnery,

Brain : a journal of neurology - Mar 2010