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Abstract

A previously healthy 15-year-old Asian boy presented with progressive bilateral painless vision loss, dyschromatopsia, and visual field defects. Optical coherence tomography showed diffuse retinal nerve fiber layer thinning. Work-up including neuroimaging, lab testing for acquired bilateral optic atrophy, extensive mitochondrial and nuclear genetic testing yielded negative results. Several years after initial presentation, his paternal uncle tested positive for an autosomal dominant variant in the Ubiquitin C-terminal hydrolase L1 (UCHL1) gene. This led to reanalysis of the patient's previous exome sequencing data that identified the familial pathogenic variant in the UCHL1 gene, which has been associated with optic atrophy.