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 reduc

SUBMITTER: Kurata K 

PROVIDER: S-EPMC8789597 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature