Ascaso F J, Del Buey M A, Huerva V, Latre B, Palomar A
Department of Ophthalmology, University Clinic Hospital, Zaragoza, Spain.
Eur J Ophthalmol. 1993 Apr-Jun;3(2):101-3. doi: 10.1177/112067219300300210.
We report the case of a 14-year-old girl with multiple findings characteristic of Noonan's syndrome, including short stature, mild mental retardation, facial, skeletal and renal abnormalities. In addition, ophthalmic examination revealed a keratoconus in the left eye and a right optic disc coloboma. To date, only two cases of Noonan's syndrome with keratoconus have been reported, and this is the second case of this syndrome with optic disc coloboma. To our knowledge, this is the first report of Noonan's syndrome associated with unilateral keratoconus and contralateral optic disc coloboma. In view of the large number of patients with Noonan's syndrome reported to date and the rarity of these ocular abnormalities, it is most likely that this association is fortuitous. Ocular findings reported in patients with Noonan's syndrome are reviewed.
我们报告了一名14岁女孩的病例，她有多种符合努南综合征的特征性表现，包括身材矮小、轻度智力障碍、面部、骨骼和肾脏异常。此外，眼科检查发现左眼圆锥角膜和右眼视盘缺损。迄今为止，仅报告了两例患有圆锥角膜的努南综合征病例，而这是该综合征伴有视盘缺损的第二例。据我们所知，这是首例与单侧圆锥角膜和对侧视盘缺损相关的努南综合征报告。鉴于迄今为止报道的努南综合征患者数量众多，而这些眼部异常较为罕见，这种关联很可能是偶然的。本文对努南综合征患者报告的眼部表现进行了综述。
