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Esotropia in Kabuki syndrome
1Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India.
Journal of Pediatric Ophthalmology and Strabismus
|January 11, 2011
Summary
Kabuki syndrome, a rare genetic disorder, often presents with distinctive facial features and affects multiple organ systems. This report highlights underrecognized ocular findings, specifically esotropia and unique corneal opacities, in a patient with Kabuki syndrome.
Area of Science:
- Ophthalmology
- Genetics
- Pediatrics
Background:
- Kabuki syndrome is a rare genetic disorder characterized by developmental delay and distinctive facial features.
- It affects multiple organ systems, but ocular manifestations are often underreported in the literature.
Observation:
- A patient with Kabuki syndrome presented with esotropia, a form of inward-turning eye misalignment.
- Additionally, the patient exhibited previously undocumented nummular corneal opacities, appearing as coin-shaped cloudiness.
Findings:
- The case highlights specific ocular findings in Kabuki syndrome: esotropia and unique nummular corneal opacities.
- These findings contribute to the understanding of the spectrum of visual impairments associated with this condition.
Implications:
- Early identification of these ocular findings is crucial for timely intervention and management of visual deficits in Kabuki syndrome patients.
- Further research is warranted to elucidate the pathogenesis of these specific corneal opacities and their impact on vision.
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