Resnick K, Zuckerman J, Cotlier E
Ophthalmic Paediatr Genet. 1986 Mar;7(1):1-8. doi: 10.3109/13816818609058036.
The Cohen syndrome is an autosomal recessive disorder which is characterized by hypotonia, obesity, mental deficiency, and facial, oral and ocular anomalies. During a twelve-year period of observation, the authors' patient manifested pigmentary retinal degeneration and a bull's eye macular lesion. The Cohen syndrome must be included in the differential diagnosis of syndromes with retinitis pigmentosa.
科恩综合征是一种常染色体隐性疾病,其特征为肌张力减退、肥胖、智力缺陷以及面部、口腔和眼部异常。在为期12年的观察期内,作者的患者表现出色素性视网膜变性和靶心状黄斑病变。在对伴有色素性视网膜炎的综合征进行鉴别诊断时,必须考虑到科恩综合征。