Autosomal dominant optic atrophy caused by six novel pathogenic OPA1 variants and genotype-phenotype correlation analysis.

doi:10.1186/s12886-022-02546-0

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Article

Autosomal dominant optic atrophy caused by six novel pathogenic OPA1 variants and genotype-phenotype correlation analysis.

BMC ophthalmology - 26 Jul 2022

Han Jinfeng, Li Ya, You Ya, Fan Ke, Lei Bo

Abstract excerpt

PURPOSE: To describe the genetic and clinical features of nineteen patients from eleven unrelated Chinese pedigrees with OPA1-related autosomal dominant optic atrophy (ADOA) and define the phenotype-genotype correlations. METHODS: Detailed ophthalmic examinations were performed. Targeted next-gen...

Topics

GTP Phosphohydrolases
Genetic Association Studies
Humans
Mutation
Optic Atrophy, Autosomal Dominant
Pedigree

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