TY - JOUR
T1 - Clinical Reasoning
T2 - A 31-Year-Old Man With Sequential Vision Loss
AU - Fortes, Blake
AU - Chen, John J.
AU - Bhatti, M. Tariq
N1 - Publisher Copyright:
Copyright © 2021 American Academy of Neurology
PY - 2022/1/25
Y1 - 2022/1/25
N2 - 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 13513G>A position confirming the diagnosis of LHON. The three primary mutations (11778G>A, 14484T>C, and 3460G>A) 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.
AB - 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 13513G>A position confirming the diagnosis of LHON. The three primary mutations (11778G>A, 14484T>C, and 3460G>A) 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.
UR - http://www.scopus.com/inward/record.url?scp=85124090729&partnerID=8YFLogxK
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U2 - 10.1212/WNL.0000000000013084
DO - 10.1212/WNL.0000000000013084
M3 - Article
C2 - 34799463
AN - SCOPUS:85124090729
SN - 0028-3878
VL - 98
SP - 163
EP - 169
JO - Neurology
JF - Neurology
IS - 4
ER -