abstract
- Introduction and objectives: Kabuki syndrome is a rare congenital malformation syndrome originally described by Niikawa et al. in 1981. A wide array of pathogenic variants and phenotypes have been described ever since. However, cases from Hispanic-Mexican populations evaluated with multimodal imaging are scarce. Therefore, the aim of this study is to report on the multimodal evaluation of a Hispanic-Mexican case with a novel pathogenic variant. Materials and methods: Next generation sequencing was used to search for pathogenic variants in KMT2D in the proband and her parents and sibling. A full systemic and ophthalmological examination along with ancillary studies were undertaken. Results: Only the proband had relevant findings and a compatible pathogenic variant in KMT2D. The systemic and ophthalmic phenotype correlates with previous reports of Kabuki syndrome. Ancillary studies of the retina, optic nerve, macular area, macular vascular flow and cornea were within normal limits. The novel detected pathogenic variant in the proband was c.6341del (p.Gly2114Alafs*30) in KMT2D. Conclusions: The present paper reports on a novel pathogenic variant in Kabuki syndrome. The multimodal imaging evaluation of the ophthalmic phenotype was within normal limits. © 2025 Sociedad Española de Oftalmología