title: Rare ocular features in a case of Kabuki syndrome (Niikawa-Kuroki syndrome).
abstract: BACKGROUND
  Kabuki syndrome is a multi-system disorder with peculiar facial features, and ophthalmic abnormalities are frequently involved. This case report of a child with Kabuki syndrome describes two new previously unreported ophthalmic conditions.
  
  
  METHODS
  A 3-year-old Taiwanese boy with Kabuki syndrome had a short stature, spinal dysraphism, intellectual disability and typical facial features. Ophthalmic findings which have been previously reported in the literature and in this patient, included ptosis, esotropia, coloboma of the iris, retina, choroid and optic disc, and microcornea. The newly identified ophthalmic features in this patient included colobomatous microphthalmos and a dysplastic and elevated disc without central cupping. The genetic analysis identified an MLL2 gene mutation.
  
  
  CONCLUSIONS
  The presentations of a dysplastic disc and colobomatous microphthalmia are rarely reported in patients with Kabuki syndrome, but these ophthalmic abnormalities may affect vision. Detailed ophthalmic evaluations in children with Kabuki syndrome are advised.
authors.forename: Yi-Hsing
authors.initials: YH
authors.lastname: Chen
authors.forename: Ming-Hui
authors.initials: MH
authors.lastname: Sun
authors.forename: Shao-Hsuan
authors.initials: SH
authors.lastname: Hsia
authors.forename: Chi-Chun
authors.initials: CC
authors.lastname: Lai
authors.affiliation: Department of Ophthalmology, Chang Gung Memorial Hospital, No, 5, Fu-Hsing Street, Kweishan, Taoyuan 333, Taiwan. weichi666@gmail.com.
authors.forename: Wei-Chi
authors.initials: WC
authors.lastname: Wu
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D002675:Child, Preschool; D003103:Coloboma / Q000175:diagnosis* / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics; D005145:Face / Q000002:abnormalities*; D006402:Hematologic Diseases / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008297:Male; D008850:Microphthalmos / Q000175:diagnosis* / Q000235:genetics; D009154:Mutation / Q000235:genetics; D009363:Neoplasm Proteins / Q000235:genetics; D009898:Optic Disk / Q000002:abnormalities*; D014057:Tomography, X-Ray Computed; D015837:Vestibular Diseases / Q000175:diagnosis* / Q000235:genetics
chemical_list: D004268:DNA-Binding Proteins; C120898:KMT2D protein, human; D009363:Neoplasm Proteins