Clinical and molecular genetic findings in autosomal dominant OPA3-related optic neuropathy

@article{Sergouniotis2014ClinicalAM,
  title={Clinical and molecular genetic findings in autosomal dominant OPA3-related optic neuropathy},
  author={Panagiotis I. Sergouniotis and Rahat Perveen and Dawn L. Thiselton and Konstantinos Giannopoulos and Marios Sarros and Jennifer Davies and Susmito Biswas and Alec M. Ansons and Jane L. Ashworth and Ian Lloyd and Graeme C. Black and Marcela Votruba},
  journal={neurogenetics},
  year={2014},
  volume={16},
  pages={69-75}
}
Leber hereditary optic neuropathy and autosomal dominant optic atrophy are the two most common inherited optic neuropathies. The latter has been associated with mutations in the OPA1 and OPA3 genes. To date, only six families with OPA3-associated dominant optic atrophy have been reported. In order to identify additional families, we performed Sanger sequencing of the OPA3 gene in 75 unrelated optic neuropathy patients. Affected individuals from two families were found to harbour the c.313C > G… CONTINUE READING
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