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to definitively determine the cause. This article is protected by copyright. All rights reserved.OBJECTIVE Dominant optic atrophy (DOA) is the most common inherited optic neuropathy with a prevalence of 112,000 to 125,000. OPA1 mutations are found in 70% of DOA patients, with a significant number remaining undiagnosed. METHODS We screened 286 index cases presenting optic atrophy, negative for OPA1 mutations, by targeted NGS or whole-exome sequencing. Pathogenicity and molecular mechanisms of the identified variants were studied in yeast
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