Cardiofaciocutaneous syndrome is a RASopathy characterised by heart defects, distinctive facial features, and skin/hair abnormalities. Eye problems frequently occur.
Ocular manifestations
Visual development may be affected by several mechanisms.
- Strabismus, nystagmus, and refractive errors
- Ptosis, optic nerve anomalies, or cortical visual impairment in some children
- Dry eye or exposure if lids do not close fully
- Mutations typically in BRAF, MAP2K1, MAP2K2, or KRAS
Management
Supportive care addresses both systemic and ocular issues.
- Regular eye examinations with treatment of refractive error and squint
- Cardiology oversight for congenital heart disease
- Developmental therapies and early support services
- Genetic counselling for affected families
