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

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 i...

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Detalles Bibliográficos
Autores principales:	Kurata, Kentaro, Hosono, Katsuhiro, Takayama, Masakazu, Katsuno, Masahisa, Saitsu, Hirotomo, Ogata, Tsutomu, Hotta, Yoshihiro
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2022
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8789597/ https://www.ncbi.nlm.nih.gov/pubmed/35112026 http://dx.doi.org/10.1016/j.ajoc.2022.101298

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