Genetic screening for OPA1 and OPA3 mutations in patients with suspected inherited optic neuropathies.

@article{YuWaiMan2011GeneticSF,
  title={Genetic screening for OPA1 and OPA3 mutations in patients with suspected inherited optic neuropathies.},
  author={Patrick Yu-Wai-Man and Suma P Shankar and V Biousse and N. R. Miller and Lora J. H. Bean and Bradford W. Coffee and Madhuri R. Hegde and N J Newman},
  journal={Ophthalmology},
  year={2011},
  volume={118 3},
  pages={558-63}
}
PURPOSE Autosomal-dominant optic atrophy (DOA) is one of the most common inherited optic neuropathies, and it is genetically heterogeneous, with mutations in both OPA1 and OPA3 known to cause disease. Approximately 60% of cases harbor OPA1 mutations, whereas OPA3 mutations have been reported in only 2 pedigrees with DOA and premature cataracts. The aim of this study was to determine the yield of OPA1 and OPA3 screening in a cohort of presumed DOA cases referred to a tertiary diagnostic… CONTINUE READING

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