ArticleAmerican journal of ophthalmology case reports2022
Retinitis pigmentosa with optic neuropathy and
Article in American journal of ophthalmology case reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers, 1 of them a synthesis that pooled it.
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Who cites it
4 citing papers in PubMed, 1 synthesis or guideline pooled it, 3 citations in OpenAlex.
- COQ2-Associated Primary Coenzyme Q10 Deficiency Presenting With Proteinuria: A Case Report and Literature Review.Molecular genetics & genomic medicine · 2026Pooled it
- Mitochondrial Dysfunctions in Human Primary Coenzyme QBiomolecules · 2026Review
- Prenatal Diagnosis ofKidney international reports · 2025Article
- Ocular genetics in the Japanese population.Japanese journal of ophthalmology · 2024Review
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo report the clinical findings of a Japanese patient presenting with retinitis pigmentosa (RP) together with optic neuropathy and 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
conclusionThis is the first description of a case of RP together with LHON harboring
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Registered trials
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