The OPA1 gene homepage
A database from the MITOchondrial DYNamics variation portal "Mitodyn.org".
This database is also one of the "Eye disease" gene variant databases.
||optic atrophy 1 (autosomal dominant)|
||NM_015560.2 exon/intron table, NM_130837.2 exon/intron table|
|Associated with diseases
||BEHRS, MTDPS-14, neuropathy, optic, OPA, OPA+, OPA-1, glaucoma, normal tension, susceptibility to|
||PubMed: Ferre, Hum Mutat (2005), PubMed: Ferre, Hum Mutat (2015), PubMed: Le Roux, Orphanet J Rare Dis (2019)|
||Genomic reference sequence|
|Total number of public variants reported
|Unique public DNA variants reported
|Individuals with public variants
|Download all this gene's data
||Download all data|
||Mutations in the optic atrophy 1 gene (OPA1; MIM# 605290) are responsible for about 60-80% of the cases of autosomal dominant optic atrophy (DOA, Kjer type; MIM# 165500; characterized by moderate to severe loss of visual acuity, blue-yellow dyschromatopsia and central scotoma). The spectrum of OPA1-related disorders is highly variable. The age of onset varies from birth to over 60 years, and the severity of the visual loss ranges from subclinical loss to severe blindness. Extra ocular features, involving the central, peripheral and autonomous nervous systems, complicating the optic neuropathy are reported in about 20% of the patients carrying OPA1 pathogenic variants, leading to conditions described as the "DOA plus" or "DOA+" syndromes (MIM# 125250). A phenotype fully compatible with the Behr syndrome (MIM# 210000), associating early onset and severe optic neuropathy with spinocerebellar ataxia and retarded development was also reported.|
Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
||November 13, 2003|
|Date last updated
||June 17, 2021|
|Copyright & disclaimer|
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