Korean J Ophthalmol.  2011 Apr;25(2):136-138. 10.3341/kjo.2011.25.2.136.

Strabismus and Poor Stereoacuity Associated with Kabuki Syndrome

Affiliations
  • 1Department of Medical Genetics, Ajou University School of Medicine, Suwon, Korea. enetics@kornet.net
  • 2Department of Ophthalmology, Seoul National University Bundang Hospital, Seoul National University College of Medicine, Seongnam, Korea. hjm@snu.ac.kr

Abstract

Kabuki syndrome is characterized by long palpebral fissures, large ears, a depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation. There have been few prior detailed descriptions of strabismus or stereopsis in these patients. We report a patient with Kabuki syndrome who showed small-angle strabismus and poor stereopsis. This case illustrates the need for patients with a diagnosis of Kabuki syndrome to have an ophthalmologic evaluation. Strabismus associated with Kabuki syndrome may have a small angle that can be easily overlooked.

Keyword

Kabuki syndrome; Stereoacuity; Strabismus

MeSH Terms

Abnormalities, Multiple/physiopathology
Child
Face/abnormalities/physiopathology
Female
Hematologic Diseases/complications/physiopathology
Humans
Strabismus/*etiology/physiopathology
Vestibular Diseases/complications/physiopathology
*Vision, Binocular
*Visual Acuity

Figure

  • Fig. 1 Photograph of the patient with Kabuki syndrome shows a small-angle esotropia in the primary position. Mild limitations of abduction in both eyes were noted.


Reference

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