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Strabismus and Poor Stereoacuity Associated with Kabuki Syndrome

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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.

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.

참고문헌 (7)

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  2. Genevieve D, "Atypical findings in Kabuki syndrome: report of 8 patients in a series of 20 and review of the literature", Am J Med Genet A, 129A, pp.64~68 (2004)
  3. White SM, "Growth, behavior, and clinical findings in 27 patients with Kabuki (Niikawa- Kuroki) syndrome", Am J Med Genet A, 127A, pp.118~127 (2004)
  4. Ming JE, "Coloboma and other ophthalmologic anomalies in Kabuki syndrome: distinction from charge association", Am J Med Genet A, 123A, pp.249~252 (2003)
  5. Niikawa N, "Kabuki make-up(Niikawa-Kuroki)syndrome:a study of 62 patients", Am J Med Genet, 31, pp.565~589 (1988)
  6. 임헌섭, "안과적 이상을 동반한 가부키 증후군 1예", 대한안과학회지, 48(12), pp.1728~1730 (2007), 대한안과학회
  7. Turner C, "Kabuki syndrome:new ocular findings but no evidence of 8p22-p23.1 duplications in a clinically defined cohort", Eur J Hum Genet, 13, pp.716~720 (2005)

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