Autosomal dominant optic atrophy: penetrance and expressivity in patients with OPA1 mutations.

@article{Cohn2007AutosomalDO,
  title={Autosomal dominant optic atrophy: penetrance and expressivity in patients with OPA1 mutations.},
  author={Amy C. Cohn and Carmel Toomes and Catherine Potter and Katherine V. Towns and Alex W. Hewitt and Chris F. Inglehearn and Jamie Evan Craig and David A Mackey},
  journal={American journal of ophthalmology},
  year={2007},
  volume={143 4},
  pages={656-62}
}
PURPOSE We identified families with autosomal dominant optic atrophy (ADOA), determined the number and type of OPA1 mutations, and investigated the phenotypic variation and penetrance in ADOA Australian pedigrees. DESIGN Cross-sectional genetics study. METHODS Probands were identified on the basis of characteristic clinical features of ADOA. We screened the OPA1 gene using single-strand conformational polymorphism, heteroduplex analysis (SSCP/HA), or by direct sequencing. Penetrance for… CONTINUE READING

Citations

Publications citing this paper.
Showing 1-10 of 39 extracted citations

Similar Papers

Loading similar papers…