Lee N B, Kelly L, Sharland M
Ophthalmology Department, St. George's Hospital, London.
Eye (Lond). 1992;6 ( Pt 3):328-34. doi: 10.1038/eye.1992.66.
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.
努南综合征是一种以常染色体显性方式遗传的基因疾病，其特征为先天性心脏病、身材矮小、面容异常以及具有特纳综合征的躯体特征，但核型正常。本文报告了58例努南综合征患者的眼科和视光学检查结果。外部特征包括眼距增宽（74%）、睑裂向下倾斜（38%）、内眦赘皮（39%）和上睑下垂（48%）。视光学检查发现48%的患者有斜视，61%有屈光不正，33%有弱视，9%有眼球震颤。63%的患者有眼前节改变，包括：角膜神经突出（46%）、前基质营养不良（4%）、白内障（8%）和全葡萄膜炎（2%）。20%的研究组患者有眼底改变，包括视乳头 drusen、视盘发育不全、缺损和有髓神经。47%的患者需要非手术治疗，另有16%因斜视或上睑下垂接受了手术。只有3例患者没有视觉缺陷。鉴于眼科异常的发生率如此之高，显然重要的是，努南综合征患儿应在早期由眼科医生进行筛查。
