Warburg M, Pedersen S A, Hørlyk H
Gentofte Hospital, Eye Clinic for Patients with Multiple Handicaps, Denmark.
Ophthalmic Paediatr Genet. 1990 Mar;11(1):7-13. doi: 10.3109/13816819009012943.
A patient with the Cohen syndrome is described and the literature is reviewed. Electroretinography (ERG) showed that the patient had a tapeto-retinal degeneration. The authors believe that a retinitis pigmentosa-like phenotype is an obligatory sign in patients with the Cohen syndrome. Assessment of a tapeto-retinal dystrophy by electroretinography, however, is often not available for mentally retarded persons. The authors' patient also had granulocytopenia. This was previously described in Finnish patients with Cohen's syndrome. They speculate that this sign is more prevalent in the disorder than would appear from the literature. Alternatively, there may be a type I Cohen syndrome with granulocytopenia and a type II without.
本文描述了一名患有科恩综合征的患者并对相关文献进行了综述。视网膜电图（ERG）显示该患者存在毯层视网膜变性。作者认为色素性视网膜炎样表型是科恩综合征患者的必然体征。然而，对于智障患者，通常无法通过视网膜电图评估毯层视网膜营养不良。作者的患者还患有粒细胞减少症。这在芬兰的科恩综合征患者中曾有过描述。他们推测，该体征在这种疾病中的普遍性可能比文献中所显示的更高。或者，可能存在伴有粒细胞减少症的I型科恩综合征和不伴有粒细胞减少症的II型科恩综合征。
