Coffin-Lowry syndrome is an X-linked developmental disorder characterised by intellectual disability and distinctive facial and skeletal features. Various eye problems may occur.
Ocular features
Vision issues are part of a broader multisystem picture.
- Strabismus, refractive errors, and occasional optic nerve anomalies
- Ptosis or other eyelid abnormalities in some patients
- Possible retinal changes or coloboma in rare cases
- RPS6KA3 gene mutations underlie the condition
Management
Treatment is supportive and focuses on maximising function.
- Early ophthalmic assessment and glasses or squint surgery as needed
- Developmental, educational, and physiotherapy support
- Genetic counselling for affected families
- Monitoring for cardiac and skeletal complications
