Page 69 - Clinical variability in Noonan syndrome with emphasison ear and eye

OCULAR FINDINGS IN NOONAN SYNDROME: A RETROSPECTIVE STUDY OF 105 PATIENTS
In conclusion, various ocular abnormalities in childhood, including low visual acuity of both eyes leading to visual impairment, are found in a large cohort of patients with Noonan syndrome. Permanent visual impairment is mainly caused by binocular optic nerve abnormalities and nystagmus is found in patients with a mutation in RAF1, SHOC2, or KRAS. Timely screening for ocular abnormalities will help to diagnose NS and facilitates early treatment of potentially vision threatening abnormalities. For children with visual impairment prompt rehabilitation is indispensable for developmental purposes. Therefore, an ophthalmologist should examine all patients suspected of, or diagnosed with NS.
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