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[外胚层发育不良、缺指(趾)畸形和腭裂综合征:1例该综合征的眼部表现病例报告]

[Ectodermal dysplasia, ectrodactyly and clefting syndrome: ocular manifestations of this syndrome in a case report].

作者信息

Almeida Sandra Flávia Fiorentini de, Solari Helena Parente

机构信息

Departamento de Oftalmologia, Universidade Federal de São Paulo, Av. Comendador Adibo Ares 1021, São Paulo, SP, CEP 05613-001 Brazil.

出版信息

Arq Bras Oftalmol. 2007 Jan-Feb;70(1):125-8. doi: 10.1590/s0004-27492007000100023.

Abstract

A case of ectodermal dysplasia, ectrodactyly and clefting syndrome (EEC), a rare disease with an important ocular impairment and with scarce literature. Patient, 26 years old with complaints of pain, with photophobia and low visual acuity in the left eye for three days. The patient was submitted to a genetic investigation after complete physical and ophthalmologic examinations. EEC syndrome was diagnosed and all systemic and ocular modifications identified. The patient presented a scar in the left eye, with difficulties in healing due to ocular damage caused by the syndrome (lack of tear film, trichiasis, Meibomius gland absence, among others). The ocular modifications in this rare syndrome were described in order to institute preventive treatment and to reduce the risks of low visual acuity in patients who receive this genetic diagnosis.

摘要

一例外胚层发育不良、缺指(趾)并腭裂综合征(EEC),这是一种罕见疾病,伴有严重的眼部损害且相关文献稀少。患者,26岁,主诉疼痛,左眼畏光且视力低下三天。患者在完成全面的体格检查和眼科检查后接受了基因检测。确诊为EEC综合征,并识别出所有全身和眼部的改变。患者左眼有瘢痕,由于该综合征导致的眼部损害(缺乏泪膜、倒睫、睑板腺缺失等),愈合困难。描述了这种罕见综合征的眼部改变,以便开展预防性治疗,并降低接受这种基因诊断的患者出现低视力的风险。

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