OCULAR MANIFESTATIONS OF NOONAN SYNDROME

被引:59
作者
LEE, NB [1 ]
KELLY, L [1 ]
SHARLAND, M [1 ]
机构
[1] ST GEORGE HOSP,DEPT OPHTHALMOL,LONDON SW17 0QT,ENGLAND
关键词
D O I
10.1038/eye.1992.66
中图分类号
R77 [眼科学];
学科分类号
100212 ;
摘要
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.
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页码:328 / 334
页数:7
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