Article
Diagnostic genetic testing for patients with bilateral optic neuropathy and comparison of clinical features according to OPA1 mutation status.
Molecular vision - 1 Jan 2017
Gaier Eric D, Boudreault Katherine, Nakata Isao, Janessian Maria, Skidd Philip, DelBono Elizabeth, Allen Keri F, Pasquale Louis R, Place Emily, Cestari Dean M, Stacy Rebecca C, Rizzo Joseph F, Wiggs Janey L
Abstract excerpt
PURPOSE: Inherited optic neuropathy is genetically heterogeneous, and genetic testing has an important role in risk assessment and counseling. The purpose of this study is to determine the prevalence and spectrum of mutations in a group of patients referred for genetic testing to a tertiary center in the United States. In addition, we compared the clinical features of patients with and without mutations in OPA1,...
Topics
- Adult
- DNA Copy Number Variations
- DNA Mutational Analysis
- DNA, Mitochondrial
- Female
- GTP Phosphohydrolases
- Genetic Testing
- Humans
- Male
- Membrane Proteins