| General information |
| Gene name |
optic atrophy 1 (autosomal dominant) |
| Gene symbol |
OPA1 |
| Chromosome Location |
3q28-q29 |
| Database location |
mitodyn.org |
| Curator |
Marc FERRE |
| Database reference for citations |
Ferre et al., Hum Mutat (2005) |
| PubMed references |
View all (unique) PubMed references in the OPA1 database |
| Date of creation |
November 13, 2003 |
| Last update |
April 19, 2013 |
| Version |
OPA1 130419 |
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| Reference sequence file |
Genomic reference sequence for describing sequence variants |
| Genomic refseq ID |
NG_011605.1 |
| Transcript refseq ID |
NM_130837.2 |
| Exon/intron information |
Exon/intron information table |
| Total number of unique DNA variants reported |
278 |
| Total number of individuals with variant(s) |
276 |
| Total number of variants reported |
280 |
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| NOTE |
Autosomal dominant optic atrophy (ADOA), also known as Kjer's disease is characterized by moderate to severe loss of visual acuity with insidious onset in early childhood, blue-yellow dyschromatopsia and central scotoma. There is a considerable inter- and intra-familial variation in visual acuity, and the penetrance may be as low as about 40%. Estimated disease prevalence is between 1:10,000 in Denmark and 1:50,000 worldwide. Histopathological and electrophysiological studies suggest that the underlying defect is retinal ganglion cell degeneration associated with optic atrophy, as observed in Leber’s hereditary optic atrophy (LHON). LHON has a sudden onset of visual loss in both eyes asynchronously and appears at a later age (18-35 yrs), although in atrophic phase is it difficult to distinguish LHON from ADOA without a family history. LHON is maternally transmitted and due to mutations in mitochondrial DNA. |
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| Copyright & disclaimer |
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2013. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.
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