DOI: 10.4103/ijo.ijo_1883_25 ISSN: 2772-3070

Novel SOX2 variant in anophthalmia syndrome

Nitya Raghu, Akila V Ramkumar, Meena Lakshmipathy
Show PDF Cite

We report a case of a novel genetic SOX2 variant detected in a child with unilateral clinical anophthalmia with contralateral microphthalmia. The child had systemic comorbidities, namely cardiac defect, hypogonadotrophic hypogonadism, and pituitary hypoplasia. Genetic testing revealed a heterozygous duplication of the SOX2 gene of unknown significance. The phenotype matches the available literature of SOX2 anophthalmia syndrome. Our case demonstrates the first duplication reported in probable SOX2 syndrome.

More from our Archive