Noonan syndrome is a RASopathy characterised by distinctive facial features, short stature, and congenital heart disease. Eye findings are frequent and varied.
Ocular features
Visual development can be affected by multiple factors.
- Hypertelorism, ptosis, and down-slanting palpebral fissures
- Strabismus, refractive errors, and amblyopia
- Nystagmus or optic nerve anomalies in some patients
- Mutations in PTPN11 and other RAS-MAPK pathway genes
Management
Multidisciplinary care is needed from infancy.
- Early ophthalmic assessment and ongoing monitoring
- Glasses, patching, or squint surgery to optimise visual acuity
- Cardiology follow-up for structural heart disease
- Genetic counselling and support for learning difficulties
