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Genotype-Phenotype Analysis and Mutation Spectrum in a Cohort of Chinese Patients With Congenital Nystagmus

19 Feb 2021

Abstract excerpt

Purpose: Congenital nystagmus (CN) is a genetically and clinically heterogeneous ocular disorder that manifests as involuntary, periodic oscillations of the eyes. To date, only FRMD7 and GPR143 have been reported to be responsible for causing CN. Here, we aimed to identify the disease-causing mutations and describe the clinical features in the affected members in our study. Methods: All the subjects underwent a...

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PMID: 33732697
DOI: 10.3389/fcell.2021.627295

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Genotype-Phenotype Analysis and Mutation Spectrum in a Cohort of Chinese Patients With Congenital NystagmusPMID 33732697Read ↗

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