Novel heterozygous UCHL1 variant causing severe optic atrophy and vision loss

Key Points

• The research aims to explore the phenotypic variability associated with heterozygous UCHL1 variants leading to optic atrophy.
• Identification of heterozygous UCHL1 variants
• Clinical assessment of vision loss
• Evaluation of multigenerational optic atrophy cases
• Heterozygous UCHL1 variants are associated with severe optic atrophy.
• Significant variability in phenotypes was observed among individuals with the same UCHL1 variant.
• Clinicians noted optic atrophy in some patients despite the absence of multisystem features.