mutation associated with severe myopia in a Canadian family.

Purpose: To describe a case of high myopia in a pediatric patient with a mutation in the gene and further characterize the diverse ocular phenotypes of heterozygous 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 generation sequencing (NGS) with the Inherited Retinal Dystrophies panel was completed in our patient and offered to the family.

Results: Further examination revealed progressive high myopia in our patient and her mother, alongside diffuse retinal thinning and normal ERG. NGS identified a likely pathogenic variant in the gene (c.235 G > A) that was maternal in origin. There were no extra-ocular concerns in our patient, and brain MRI was normal.

Conclusions: While mutations are known to cause retinopathy, this case presents a unique phenotype through a heterozygous missense variant (c.235 G > A) underlying high myopia in a three-generation family. This case further supports the role of in ocular development and demonstrates the variable expressivity of mutations. Genetic testing in families with high myopia may be useful in future surveillance and preparation for ocular and extra-ocular complications associated with -syndrome presentations.