Congenital corneal staphyloma as a complication of Kabuki syndrome

Ryuma Tanaka, Toshiki Takenouchi, Keiko Uchida, Takeshi Sato, Hiroyuki Fukushima, Hiroshi Yoshihashi, Takao Takahashi, Kazuo Tsubota, Kenjiro Kosaki

Research output: Contribution to journalArticlepeer-review

12 Citations (Scopus)


Kabuki syndrome has long been clinically defined based mainly on its characteristic eye features. The recent discovery of MLL2 as a causative gene of Kabuki syndrome has enabled the extreme end of the phenotype to be explored. We herein report on two patients with striking visible congenital staphyloma at birth. A diagnosis of Kabuki syndrome was subsequently made in both patients based on a constellation of characteristic eye features, cardiac abnormalities and severe developmental delay, and finally by the confirmation of MLL2 mutations. In conclusion, congenital corneal staphyloma is a complication of Kabuki syndrome with MLL2 mutations.

Original languageEnglish
Pages (from-to)2000-2002
Number of pages3
JournalAmerican Journal of Medical Genetics, Part A
Volume158 A
Issue number8
Publication statusPublished - 2012 Aug


  • CHARGE syndrome
  • Kabuki syndrome
  • Staphyloma

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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