Clinical Reasoning: A 31-Year-Old Man With Sequential Vision Loss.
case_report · Level V
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- Record sourced from PubMed, PMID 34799463.
- Also identified by DOI 10.1212/WNL.0000000000013084.
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Abstract
A 31-year-old healthy White man experienced painless sequential vision loss. Brain imaging and laboratory investigations for infectious, inflammatory, and nutritional conditions, in addition to targeted genetic testing for Leber hereditary optic neuropathy (LHON), were all normal or negative. Despite systemic corticosteroid therapy and plasma exchange, vision continued to worsen. Eventually, mitochondrial whole-genome sequencing was performed, which demonstrated a mutation at the <i>13513G>A</i> position confirming the diagnosis of LHON. The three primary mutations (<i>11778G>A</i>, <i>14484T>C</i>, and <i>3460G>A</i>) account for 90% of LHON cases; therefore, it is important to consider whole-genome mitochondrial sequencing in cases with a high index of clinical suspicion and negative primary mutation screening testing.