CCHS is a rare genetic disorder where automatic control of breathing during sleep and sometimes wakefulness is impaired. Eye problems can occur as part of broader autonomic dysfunction.
Neurological and ocular features
CCHS is usually diagnosed in infancy due to life-threatening hypoventilation.
- Failure to breathe adequately during sleep without ventilatory support
- Associated Hirschsprung disease and tumours of neural crest origin
- Ocular findings such as abnormal pupil responses and strabismus in some patients
- PHOX2B gene mutations are strongly linked
Management
Care is lifelong and multidisciplinary.
- Ventilatory support via tracheostomy, mask, or diaphragm pacing
- Regular monitoring for associated tumours and bowel disease
- Ophthalmic follow-up for strabismus, refractive error, and visual development
- Genetic counselling for affected families
