ArticleCase reports in ophthalmological medicine2026
Ophthalmic Manifestations in A Patient With Kabuki Syndrome: A Case Report With a KDM6A Gene Variant.
Article in Case reports in ophthalmological medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
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.
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