Smith-Magenis syndrome is a developmental disorder caused by 17p11.2 deletions or RAI1 variants. Eye and vision issues are common alongside behavioural and sleep difficulties.
Ocular manifestations
Children often present with refractive and motility problems.
- Strabismus, refractive errors, and sometimes nystagmus
- Mild ptosis or anterior segment anomalies in some cases
- Ocular signs may contribute to learning and communication challenges
- Diagnosis via chromosomal microarray or targeted genetic testing
Management
Support is multidisciplinary.
- Regular eye examinations, glasses, and amblyopia therapy if needed
- Behavioural and sleep-management programmes
- Educational support tailored to cognitive profile
- Genetic counselling and family support networks
