---
title: Noonan syndrome
description: "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…"
url: "https://bluefinvision.com/knowledge-base/topics/conditions-diseases/noonan-syndrome/"
updated: "2025-12-16"
category: "Conditions & Diseases"
---

# Noonan syndrome

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