SUMMARYNoonan syndrome is a genetic condition inherited in an autosomally dominant manner, characterised by congen ital heart disease, short stature, abnormal facies and the somatic features of Turner's syndrome, but a normal Karyotype.The ophthalmological and orthoptic findings on 58 patients with Noonan syndrome are reported. External features were hypertelorism (74%), downward sloping palpebral apertures (38 %), epicanthic folds (39 %) and ptosis (48 %). The orthoptic examination revealed stra bismus in 48%, refractive errors in 61 %, amblyopia in 33%, and nystagmus in 9% of cases.Sixty-three per cent of cases had anterior segment changes consisting of: Prominent corneal nerves (46 % ), anterior stromal dystrophy (4 %), cataracts (8 %) and pan uveitis (2 % ). Fundal changes occurred in 20 % of the study group, including optic nerve head drusen, optic disc hypoplasia, colobomas and myelinated nerves.Forty-seven per cent required non surgical treatment and a further 16% had undergone surgery for strabismus or ptosis. Only three patients had no visual defects. With such a high incidence of ophthalmic abnormalities it is clearly important that children with Noonan syndrome are screened by an ophthalmologist at an early age.

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In this population, ulcer size at the onset of antibacterial treatment and the use of certain ocular medications, specifically corticosteroids, were significant predictive factors for failure of medical therapy for BUK.