Ophthalmic genetics · 2026
Novel heterozygous UCHL1 variant causing severe optic atrophy and vision loss.
СтатьяКлинический случайНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Lee Natalie S, Fraser Clare L, Stark Zornitza, Ahmad Kate
Аннотация
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 pathogenic UCHL1 variant accounting for the two individuals' phenotype.
DISCUSSION: 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.
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 pathogenic UCHL1 variant accounting for the two individuals' phenotype.
DISCUSSION: 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.