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Article

Retinopathy and optic atrophy in a case of COQ2-related primary coenzyme Q10 deficiency.

Ophthalmic genetics - 1 Oct 2023

Stallworth Jeannette Y, Blair David R, Slavotinek Anne, Moore Anthony T, Duncan Jacque L, de Alba Campomanes Alejandra G

Abstract excerpt

PURPOSE: To describe a case of primary coenzyme Q10 deficiency in a child manifesting as early-onset renal failure, retinal dystrophy, and optic atrophy leading to progressive vision loss. METHODS: Clinical presentation and workup including visual fields, electroretinogram, and optical coherence tomography are presented. Genetic testing was performed. RESULTS: An eight-year-old female with nephropathy requiring...

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Identifiers

PMID: 36420660
DOI: 10.1080/13816810.2022.2141792
PMCID: PMC10205914

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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