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Article

Characterisation of a novel OPA1 splice variant resulting in cryptic splice site activation and mitochondrial dysfunction.

European journal of human genetics : EJHG - 1 Jul 2022

Harvey Joshua Paul, Yu-Wai-Man Patrick, Cheetham Michael Edward

Abstract excerpt

Autosomal dominant optic atrophy (DOA) is an inherited optic neuropathy that results in progressive, bilateral visual acuity loss and field defects. OPA1 is the causative gene in around 60% of cases of DOA. The majority of patients have a pure ocular phenotype, but 20% have extra-ocular features (DOA +). We report on a patient with DOA + manifesting as bilateral optic atrophy, spastic paraparesis, urinary...

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Identifiers

PMID: 35534703
DOI: 10.1038/s41431-022-01102-0
PMCID: PMC9259687

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