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Article

OTX2 mutation associated with severe myopia in a Canadian family.

Ophthalmic genetics - 1 Jun 2022

Wangding Snow, Colaiacovo Samantha, Makar Inas, Saleh Maha

Abstract excerpt

PURPOSE: To describe a case of high myopia in a pediatric patient with a mutation in the OTX2 gene and further characterize the diverse ocular phenotypes of heterozygous OTX2 mutations. PATIENT AND METHODS: We describe a three-year-old girl who presented at two months old with abnormal eye movements and suspected retinal dystrophy. Clinical exam and electroretinography (ERG) were conducted, and molecular next...

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Identifiers

PMID: 34957897
DOI: 10.1080/13816810.2021.2015791

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