J Korean Ophthalmol Soc.  2007 Dec;48(12):1728-1730.

A Case of Kabuki Syndrome with Ocular Manifestation

• Lim HS
• Ahn JH
• Rho SS
• Lew HM
• Chang YH

Abstract

PURPOSE: Kabuki syndrome is a rare syndrome of multiple congenital anomalies and mental retardation, which is characterized by a peculiar face resembles Kabuki actor, postnatal growth retardation, and skeletal abnormalities. The ocular feature such as strabismus, amblyopia, ptosis, blue sclera and long palpebral fissure with eversion of the lateral portion of lower eyelid can be seen in this syndrome. We experienced a Kabuki syndrome patient with ocular feature.
CASE SUMMARY
A 6 years old girl visited ophthalmology department for frequent blinking, abnormal movement of eyelid. She showed growth retardation, high palate arch, bifid uvula and low hairline. Best corrected visual acuity was 0.5 in the right eye and 0.4 in the left eye. She also presented with mixed astigmatism (right: +sph 1.00;-cyl 3.00 Ax 180, left: +sph 1.00;-cyl 3.50 Ax 180). In addition, Marcus-Gunn jaw winking in her left eye and a long palpebral fissure were noted. She had intermittent exotropia and a tilted optic disc in the left eye.

Keyword

Kabuki syndrome; Ocular manifestations

MeSH Terms

Amblyopia
Astigmatism
Blinking
Child
Dyskinesias
Exotropia
Eyelids
Female
Humans
Intellectual Disability
Jaw
Ophthalmology
Palate
Sclera
Strabismus
Uvula
Visual Acuity

Figure

• 

  Figure 1. The typical facial features that resemble the make-up of actors in the Japanese Kabuki theatre.

• 

  Figure 2. Long palpebral fissures and arched eyebrows are noted.

Reference

References

1. Kluijt I, van Dorp DB, Kwee ML, et al. Kabuki syndrome-Report of six cases and review of the literature with emphasis on ocular features. Ophthalmic Genet. 2000; 21:51–61.

2. Sakurai H, Nozaki M, Takeuchi M, et al. Periorbital correction in Kabuki syndrome. Plast Reconstr Surg. 2003; 111:1461–4.

3. Kim SY, Ryu NE, Cho CY, et al. A Case of Kabuki make-up syndrome. J Korean Soc Neonatol. 2000; 7:189–93.

4. Cho KH, Lee JH, Lee KH, et al. Two cases of Kabuki make-up syndrome including one case associated with Xq isochromosome. J Korean Pediatr Soc. 2000; 43:1111–5.

5. Park SK, Park DK, Choung JT, et al. A case of Kabuki make-up syndrome. J Korean Med Assoc. 1991; 34:790–2.

6. Turner C, Lachlan K, Amerasinghe N, et al. Kabuki syndrome: new ocular findings but no evidence of 8p22-p23.1 duplication in a clinically defined cohort. Eur J Hum Genet. 2005; 13:716–20.