Yannuzzi Nicolas A, Tzu Jonathan H, Ko Audrey C, Hess Ditte J, Cristian Ingrid, Berrocal Audina M
Weill Cornell Medical College, New York, New York, USA.
Ophthalmic Surg Lasers Imaging Retina. 2014 Sep-Oct;45(5):462-5. doi: 10.3928/23258160-20140827-02.
The authors describe a 34-month-old boy who presented with a bilateral and asymmetric exudative retinopathy with similarities to Coats’ disease. The patient’s medical history was remarkable for hypotonia, developmental delay, seizures, and intracranial calcifications. Genetic testing revealed a diagnosis of Coats’ plus. This rare genetic disease should be in the differential diagnosis in patients who present with a bilateral and asymmetric Coats’-like retinopathy in the presence of other systemic abnormalities.
作者描述了一名34个月大的男孩，其患有双侧不对称性渗出性视网膜病变，与科茨病相似。该患者的病史以肌张力减退、发育迟缓、癫痫发作和颅内钙化显著。基因检测显示诊断为科茨综合征。对于出现双侧不对称性类科茨病视网膜病变且伴有其他全身异常的患者，应将这种罕见的遗传疾病列入鉴别诊断。
