Novel heterozygous UCHL1 variant causing severe optic atrophy and vision loss.
Natalie S Lee, Clare L Fraser, Zornitza Stark et al.
✦ AI-curated · Sources linked
Case in brief
Two individuals from one family presented with optic atrophy and progressive vision loss. Neither had demonstrable spasticity, ataxia, or peripheral neuropathy. Genetic testing identified a novel pathogenic heterozygous UCHL1 variant that accounted for their phenotype. The report describes optic-predominant disease in the absence of the multisystem features associated with heterozygous UCHL1-related neurodegenerative disease.
What made this case unusual
Both affected family members had optic atrophy and progressive vision loss without demonstrable spasticity, ataxia, or peripheral neuropathy, broadening the reported clinical presentation of heterozygous UCHL1-related disease.
Diagnostic / clinical pearl
Consider UCHL1 testing in multigenerational optic atrophy, even when spasticity, ataxia, and peripheral neuropathy are absent.