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

ABSTRACT:

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 renal transplantation subsequently developed progressive cone-rod dystrophy and optic atrophy. The patient had negative results on a targeted next-generation sequencing retinal dystrophy panel but whole-exome sequencing revealed two variants in COQ2 (likely biallelic), consistent with a diagnosis of primary coenzyme Q₁₀ deficiency.

SUBMITTER: Stallworth JY 

PROVIDER: S-EPMC10205914 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature