Appendix 1 of Gaier, Mol Vis 2017; 23:548-560.


Appendix 1. Summary of genetic testing for unrelated optic neuropathy patients.

74 unrelated optic neuropathy patients were enrolled in the study. 62 of these initially underwent OPA1 genetic testing using Sanger sequencing (NM_130837.2) and OPA1 MLPA (Multiplex Ligation-dependent Probe Amplification). 38 of the 41 patients without mutations identified by OPA1 sequencing and MLPA were taken forward for Genetic Eye Disease (GEDi) next-generation sequencing (NGS) testing (sufficient DNA for GEDi testing was not available for 3 patients). Additionally, 12 patients underwent GEDi testing directly, as well as OPA1 MLPA. After testing was completed OPA1 mutations were identified in 24 patients (point mutations and CNVs) and a mitochondrial DNA mutation associated with Leber Hereditary Optic Neuropathy (LHON; m.11778G>A) was identified in one patient. Mutations in OPA3 and WFS1 were not identified in this cohort. To access the data, click or select the words “Appendix 1”.