Novel heterozygous UCHL1 variant causing severe optic atrophy and vision loss

Natalie S. Lee; Clare Fraser; Zornitza Stark; Kate Ahmad

doi:10.1080/13816810.2026.2655887

April 9, 2026Ophthalmic Genetics

Novel heterozygous UCHL1 variant causing severe optic atrophy and vision loss

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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.

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Implication

Findings reveal significant phenotypic variability in optic atrophy due to UCHL1 variants, suggesting genetic consideration in individuals.

Abstract

Our findings highlight the significant phenotypic variability related to heterozygous UCHL1-related disease. Clinicians should consider UCHL1 variants in individuals presenting with multigenerational optic atrophy even in the absence of multisystem features.

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Cite This Study

Lee et al. (2026) studied this question.

synapsesocial.com/papers/69db37f94fe01fead37c61ed https://doi.org/10.1080/13816810.2026.2655887

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Novel heterozygous UCHL1 variant causing severe optic atrophy and vision loss

Key Points

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Implication

Abstract

Discussion

Cite This Study

Novel heterozygous UCHL1 variant causing severe optic atrophy and vision loss

Key Points

Ask about this paper

Implication

Abstract

Discussion

Cite This Study

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