ubiquinone and Retinal-Dystrophies

To describe a case of primary coenzyme Q. Clinical presentation and workup including visual fields, electroretinogram, and optical coherence tomography are presented. Genetic testing was performed.. 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. Primary coenzyme Q

Topics: Child; Electroretinography; Female; Genetic Testing; Humans; Mutation; Optic Atrophy; Retinal Dystrophies; Tomography, Optical Coherence; Ubiquinone; Visual Fields