Novel heterozygous UCHL1 variant causing severe optic atrophy and vision loss.

Abstract excerpt

INTRODUCTION: Heterozygous UCHL1 variants have recently been associated with an autosomal dominant neurodegenerative disease characterized by spastic ataxia, optic atrophy and neuropathy. METHODS: We describe two individuals from a single family who presented with optic atrophy and progressive vision loss, without demonstrable spasticity, ataxia or peripheral neuropathy. RESULTS: Genetic testing revealed a novel...

Topics

• Humans
• Ubiquitin Thiolesterase
• Pedigree
• Female
• Heterozygote
• Male
• Optic Atrophy, Autosomal Dominant