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

ABSTRACT:

Purpose

To report the clinical findings of a Japanese patient presenting with retinitis pigmentosa (RP) together with optic neuropathy and COQ2 mutations.

Observations

The patient had experienced night blindness and photophobia since his 20s. At 27 years of age, he experienced sudden vision loss in his left eye. We performed comprehensive ophthalmic examinations. Trio-based whole-exome sequencing was performed to identify the candidate variants, which were confirmed by Sanger sequencing. Fundus examination revealed typical RP findings with an additional Leber hereditary optic neuropathy (LHON). The patient's visual acuity was severely affected, and the visual field showed central scotoma. Electroretinograms were non-recordable under scotopic condition and showed reduced response under photopic conditions. Genetic analysis revealed compound heterozygous COQ2 variants in the patient: c.469C > T [p.(P157S], and c.518G > A [p.(R173H)]. Co-segregation analysis in the unaffected parents confirmed that the two variants were in trans. During the 4-year follow-up period, his visual acuity and central scotoma gradually improved.

Conclusion

This is the first description of a case of RP together with LHON harboring COQ2 mutations. Additional cases are necessary to more accurately determine the clinical course and mutation spectrum in this condition. Highlights F0D7 A novel case of RP with LHON-like optic neuropathy is presented.F0D7 Genetic analysis suggests that COQ2 mutations caused RP and optic neuropathy.F0D7 This case suggests that LHON is caused not only by mtDNA mutations.

SUBMITTER: Kurata K

PROVIDER: S-EPMC8789597 | biostudies-literature |

REPOSITORIES: biostudies-literature

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