Retinitis pigmentosa with optic neuropathy and COQ2 mutations: A case report

Kentaro Kurata,Katsuhiro Hosono, Masakazu Takayama,Masahisa Katsuno,Hirotomo Saitsu,Tsutomu Ogata,Yoshihiro Hotta

American Journal of Ophthalmology Case Reports（2022）

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摘要

F0D7A novel case of RP with LHON-like optic neuropathy is presented.F0D7Genetic analysis suggests that COQ2 mutations caused RP and optic neuropathy.F0D7This case suggests that LHON is caused not only by mtDNA mutations.

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关键词

Retinitis pigmentosa,Optic neuropathy,COQ2 gene,Targeted next-generation sequencing

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