THE COHEN SYNDROME - RETINAL LESIONS AND GRANULOCYTOPENIA

被引：22

作者：

WARBURG, M

PEDERSEN, SA

HORLYK, H

机构：

[1] Gentofte Hospital, Eye Clinic for Patients with Multiple Handicaps, DK-2820, Gentofte, Vangede 40, Sognevej

[2] Gentofte Hospital, Department for Children with Multiple Handicaps, DK-2820, Gentofte, Vangede 40, Sognevej

来源：

OPHTHALMIC PAEDIATRICS AND GENETICS | 1990年 / 11卷 / 01期

关键词：

Leucopenia; Mental retardation; Multiple congenital anomalies; Tapeto-retinal dystrophy; Visual impairment;

D O I：

10.3109/13816819009012943

中图分类号：

R77 [眼科学];

学科分类号：

100212 ;

摘要：

A patient with the Cohen syndrome is described and the literature is reviewed. Elec-troretinography (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. © 1990 Informa UK Ltd All rights reserved: reproduction in whole or part not permitted.

引用

页码：7 / 13

页数：7

共 21 条

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