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Updated: May 26, 2026
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Leber's hereditary optic neuropathy with the 3434, 9011 mitochondrial DNA point mutation
Kyoko Shidara1, Masato Wakakura
1Inouye Eye Hospital, 4-3 Kanda-Surugadai, Chiyoda-ku, Tokyo, 101-0062, Japan. shidara-k@inouye-eye.or.jp
Background:
Leber's hereditary optic neuropathy (LHON) contains several well-known mitochondrial DNA (mtDNA) point mutations. We report a case with characteristic clinical manifestations of LHON involving a possible new LHON point mutation.
Case:
A 34-year-old man was diagnosed with LHON. The patient exhibited (1) sudden onset of bilateral visual loss, (2) normal light reflex, and (3) swelling of the peripapillary nerve fiber layer. After subsequent development of bilateral optic disc pallor, we concluded that the patient had LHON. mtDNA analysis was conducted using non-radioisotopic single-strand conformational polymorphism followed by direct sequencing. There was no change in the patient's visual acuity during the 26-month follow-up period.
Observations:
The mtDNA point mutations were found at T3434C, G3483A, and V9011A. The confirmed mtDNA substitutions included (1) A-G at nucleotide position 3434, (2) G-A at nucleotide position 3483, and (3) C-T at nucleotide position 9011. The amino acid code at the nucleotide positions 3434 and 9011 was phylogenetically highly conserved.
Conclusion:
The 3434 and 9011 mtDNA point mutations are candidates for a new LHON mutation.
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