Autosomal dominant optic atrophy
Optic Atrophies: Autosomal Dominant Optic Atrophy, ADOA - OPA1
Clinical Features
The clinical picture is an autosomal dominant optic atrophy, caused by the degeneration of the retinal ganglion cells. In a high number of patients or families mutations were detected in the dynamin-related GTPase (OPA1) gene. Mutations in OPA1 were reported with a highly variable clinical phenotype. The affected family members can show several neurological symptoms, like chronic progressive external ophthaloplegia, ataxia, sensori-motor neuropathy and hearing loss in addition to the optic atrophy. In muscle DNA of these patients multiple mtDNA deletions were detected repeatedly.
Genetic Information
In a high number of cases autosomal dominant mutations in the OPA1 gene were detected.
Prevalence
Not known
Diagnostic
Indication
Method
Mutation analysis of the coding regions, flaunking intronic regions and the 5' and 3' non-coding regions of the OPA1 gene by direct DNA sequencing
Sample Requirement
2 - 4 ml EDTA blood or DNA
Duration
3 - 5 weeks
OMIM