Ophthalmic Manifestations in A Patient With Kabuki Syndrome: A Case Report With a KDM6A Gene Variant

Kabuki syndrome (KS) is a rare genetic disorder with a wide phenotypic spectrum and several genotypic variants. KS can result from mutations on Chromosome 12 (KMT2D gene) and Chromosome X (KDM6A gene). The KDM6A gene mutation is seen in approximately 2%-6% of Kabuki syndrome cases. In this case report, we present a patient with KS who had a rare and potentially pathogenic heterozygous c.3457dup (p.His153ProfsTer2) in the KDM6A gene from an ophthalmological perspective. Examination revealed distinctive facial features and some common and rare ophthalmological findings. A small number of cases have reported high myopic refractive error and optic disc hypoplasia, as in this case.