Brodsky M C, Keppen L D, Rice C D, Ranells J D
Department of Ophthalmology, University of Arkansas for Medical Sciences, Little Rock.
Am J Ophthalmol. 1990 Apr 15;109(4):450-6. doi: 10.1016/s0002-9394(14)74612-4.
The Aarskog (facial-digital-genital) syndrome is an X-linked disorder in which short stature is accompanied by hypertelorism, digital anomalies, and shawl scrotum. Except for hypertelorism and blepharoptosis, ophthalmic abnormalities have been rarely noted in this condition. We examined four patients who had Aarskog syndrome and unilaterally or bilaterally decreased vision on initial examination. Three family members had V-pattern esotropia, latent nystagmus, inferior oblique overaction, and amblyopia. A fourth patient had bilateral blepharoptosis and severe astigmatism. Other ocular features included hyperopia, anisometropia, deficient ocular elevation, blue sclerae, and posterior embryotoxon. These findings underscore the need for ophthalmic examination in asymptomatic patients with Aarskog syndrome to rule out treatable causes of visual loss.
阿斯克格（面部-指-生殖器）综合征是一种X连锁疾病，其特征为身材矮小，并伴有眼距过宽、手指异常和阴囊呈披肩状。除眼距过宽和上睑下垂外，这种疾病很少出现眼部异常。我们检查了4例阿斯克格综合征患者，他们初诊时存在单眼或双眼视力下降。3名家庭成员有V型内斜视、潜在性眼球震颤、下斜肌亢进和弱视。第四名患者有双侧上睑下垂和严重散光。其他眼部特征包括远视、屈光参差、眼球上抬不足、蓝色巩膜和后胚胎环。这些发现强调，对于无症状的阿斯克格综合征患者，需要进行眼科检查，以排除可治疗的视力丧失原因。
