title: Ocular manifestations of Noonan syndrome.
abstract: Noonan syndrome is a genetic condition inherited in an autosomally dominant manner, characterised by congenital 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 strabismus 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 panuveitis (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.
authors.affiliation: Ophthalmology Department, St. George's Hospital, London.
authors.forename: N B
authors.initials: NB
authors.lastname: Lee
authors.forename: L
authors.initials: L
authors.lastname: Kelly
authors.forename: M
authors.initials: M
authors.lastname: Sharland
mesh_terms: D000293:Adolescent; D000328:Adult; D000869:Anterior Eye Segment; D002648:Child; D002675:Child, Preschool; D003315:Cornea / Q000294:innervation; D005128:Eye Diseases / Q000209:etiology*; D005143:Eyelids / Q000002:abnormalities; D005260:Female; D006801:Humans; D006972:Hypertelorism / Q000209:etiology; D007223:Infant; D008297:Male; D009634:Noonan Syndrome / Q000150:complications*; D009901:Optic Nerve Diseases / Q000209:etiology; D012030:Refractive Errors / Q000209:etiology; D013285:Strabismus / Q000209:etiology