Kabuki syndrome is a genetic disorder with distinctive facial features, developmental delay, and skeletal anomalies. Eye problems are common and varied.
Ocular manifestations
Features may aid early recognition.
- Long palpebral fissures with eversion of the lower lateral eyelid
- Strabismus, ptosis, and refractive errors
- Occasional coloboma or optic nerve anomalies
- Most cases due to KMT2D or KDM6A variants
Management
Supportive care focuses on visual and developmental outcomes.
- Regular eye examinations with glasses and amblyopia treatment as needed
- Assessment for hearing loss, cardiac defects, and immune problems
- Early educational and therapy support
- Genetic counselling for families
