一例眼-面-心-牙综合征患者的临床表型特征及分子遗传学研究

目的 对一罕见的眼-面-心-牙(OFCD)综合征患者家系进行临床表型特征随访研究及致病基因突变筛查研究.方法 实验研究.对患者进行详尽的临床多科室检查及表型资料收集.应用聚合酶链式反应(PCR)和Sanger测序法对OFCD患者及其父母进行候选基因BCOR的突变筛查,对携带碱基改变的序列进行单链PCR克隆产物的测序验证,并在60名无关正常对照人群中进行测序验证.结果 表型研究结果提示患者存在眼部、面部、心脏、牙齿和肢体的先天发育异常,同时合并有脉络丛乳头状瘤表型,患者父母的临床表型未见异常,患者被确诊为OFCD综合征.候选基因突变筛查研究发现患者BCOR基因外显子4存在一个新的杂合缺失突变c.1296delT,该突变在患者父母及正常人群中没有检测到.结论 本研究首次报道了一例OFCD综合征合并脉络丛乳头状瘤的表型,拓展了OFCD综合征的疾病表型谱.候选基因突变筛查发现了BCOR基因外显子4的一个新缺失突变c.1296delT,该突变导致OFCD综合征的发生.     

von Hippel-Lindau综合征眼部进展病变的研究

von Hippel-Lindau（VHL）综合征是一类表现为全身多器官肿瘤或囊肿的常染色体显性遗传性疾病，VHL综合征在眼部的病变主要表现为视网膜毛细血管瘤。目前对VHL综合征及其眼部病变的发病机制和临床方面做了大量研究，本文就有关VHL综合征及其眼部病变的基因研究、临床分型及表现、临床诊断和治疗现状进行综述。     

以眼部表现首诊的获得性免疫缺陷综合征二例

人感染免疫缺陷病毒（HIV）及获得性免疫缺陷综合征（AIDS）患者中有30％～40％出现眼部并发症，2％的患者以眼部为首发病变。然而，大多数眼科医师对其眼部表现的临床诊治经验还不多。我们报告以眼部表现首诊的AIDS病并发巨细胞病毒性视网膜炎（CMV）分别被误诊为Behcet病及视网膜血管炎的患者各1例，并探讨HIV感染与AIDS并发CMV的临床特点、诊断、鉴别诊断及治疗原则。     

食管癌术后复发致Horner氏综合征一例

食管癌术后复发致Ｈｏｒｎｅｒ氏综合征一例赵东卿，王介平，吴众，杨爱琴（河南省郑州眼科研究所郑州４５０００３）Ｎｏｒｎｅｒ氏综合征是由瞳孔缩小、上睑下垂及眼球内陷三大症状为主要表现的一种眼部综合病症。常由颈内、颈部和纵隔病变及手术、外伤破坏损伤颈交感神...     

玻璃体切割术治疗马凡氏综合征的视网膜脱离

马凡氏综合征也称先天性中胚叶营养障碍综合征，大约７０％马凡氏综合征病人是１５号常染色体异常。眼部主要表现为小瞳孔、屈光不正、晶状体异位，裂孔源性或／和牵引性视网膜脱离伴斜视、虹膜异常、青光眼等。本文讨论马凡氏综合征合并视网膜脱离的特点及治疗。１资料与方法 马凡氏综合征病人８例１６只眼，９只眼合并视网膜脱离，８只眼行手术治疗，均为男性，有典型骨骼异常，年龄范围在１０～４５岁间，平均年龄为２６．８岁。（合并视网膜脱离的９只眼）眼部表现：（１）视力：眼前手动～手动／３０ ｃｍ者 ５只眼，指数／２０ｃｍ者 …     

眼干燥综合征50例

眼干燥综合征５０例庞国祥，王良乐，董怡，李小春Ｓｊｏｇｒｅｎ综合征是一种较常见的系统免疫性疾病，原因尚不十分清楚，近年对其研究取得很大进步，我们对４年来诊治的本病患者的眼部表现和治疗小结如下。一、对象和方法１．对象：眼干燥综合征（ＳＳ）５０例，其中男...     

POEMS综合征及其眼部表现

POEMS综合征是一种累及全身多系统的疾病.本文对其病因、发病机制、临床表现（尤其是眼部表现）、治疗以及病程和预后等进行综述.     

应该重视视频终端综合征的研究

本文介绍了视频终端（VDT）的特性及VDT综合征患者的眼部表现,VDT对眼部的影响研究涉及对视觉功能、视觉发育和眼表性状等各方面。此类研究目前尚处初步阶段,重视和深入研究才能为临床提供积极有效的防治方法。     

以眼部表现为主的鼻部和颅内肿瘤

以眼部表现为主的鼻部和颅内肿瘤广东省佛山市张槎医院眼科廖任宏在临床上以眼部表现为主或唯一症状的眼外肿瘤并非少见。本文５例（６眼）患者均有这种情况，鼻咽癌３例，其中２例引起Ｈｏｒｎｅｒ＇ｓ综合征，筛窦骨瘤１例，颅咽管瘤１例（２眼），现报告如下。例１何×...     

Stevens-Johnson综合征或中毒性表皮坏死松解症24例分析

目的探讨Stevens-Johnson综合征（SJS）或中毒性表皮坏死松解症（TEN）急性期的临床特点、眼部表现及治疗。方法回顾性病例研究。对2012年5月-2014年2月于北京协和医院皮肤科确诊为SJS或TEN的24例患者的病史、眼部表现及治疗进行回顾性分析。结果24例患者均由口服药引起,主要致敏药物为抗生素（7例）、解热镇痛药（6例）和神经精神药（4例）。24例患者中16例出现眼部受累,所有眼部受累患者均为双眼受累,13例出现结膜充血,12例出现结膜渗出,9例累及眼睑,7例出现结膜假膜,7例累及睑缘,3例累及角膜。24例患者均接受全身激素治疗,眼部受累患者联合眼部激素治疗,病情较重者辅以免疫抑制剂,眼部分泌物较多者行人工泪液冲洗,必要时分离睑球粘连。结论SJS或TEN急性期可表现为不同程度的皮肤及黏膜损害,多伴眼部受累,全身和局部足量的糖皮质激素治疗可控制病情发展,减轻眼部损伤。     

Cohen syndrome: report of nine cases and review of the literature, with emphasis on ophthalmic features.

PURPOSE: To review the clinical features of reported cases of Cohen syndrome with a focus on ophthalmic features and report nine new cases. METHODS: Retrospective case series and literature review. RESULTS: Cohen syndrome is a rare autosomal-recessive condition with about 136 reported cases. The typical phenotype of Cohen syndrome is variable and includes mild to severe psychomotor retardation, microcephaly, a cheerful disposition, characteristic facial features, childhood hypotonia and joint laxity, truncal obesity, intermittent neutropenia, along with a progressive retinal dystrophy and refractive myopia. We present nine cases that illustrate the typical clinical features of the disorder at different ages, including a woman with the less common finding of ectopia lentis. CONCLUSIONS: Cohen syndrome remains underdiagnosed or misdiagnosed by ophthalmologists. Awareness of this condition among ophthalmologists is important because the typical systemic and ophthalmologic findings may lead to an accurate diagnosis and counseling. Although diagnostic criteria exist based on clinical studies of patients with confirmed VPS13B (COH1) gene mutations, no minimal clinical diagnostic criteria are widely accepted at this time.     

Vogt-Koyanagi-Harada Syndrome: Review of Clinical Features

Vogt-Koyanagi-Harada syndrome is a bilateral, chronic, diffuse granulomatous panuveitis associated with poliosis, vitiligo, and central nervous system and auditory signs. Increasing reports have been published to describe the clinical features of Vogt-Koyanagi-Harada syndrome. These manifestations are variable. This article presents a review of the clinical features.     

Vogt-Koyanagi-Harada syndrome: review of clinical features

Vogt-Koyanagi-Harada syndrome is a bilateral, chronic, diffuse granulomatous panuveitis associated with poliosis, vitiligo, and central nervous system and auditory signs. Increasing reports have been published to describe the clinical features of Vogt-Koyanagi-Harada syndrome. These manifestations are variable. This article presents a review of the clinical features.     

Nd：YAG激光治疗白内障术后囊袋阻滞综合征疗效分析

目的:探讨白内障超声乳化吸出联合人工晶状体植入术后晶状体囊袋阻滞综合征临床特征及Nd:YAG激光治疗方法选择.方法:回顾性分析7例术后晶状体囊袋阻滞综合征临床特征及Nd:YAG激光治疗方法.其中2例术后早期晶状体囊袋阻滞综合征采用Nd:YAG激光前囊膜周边造孔术;4例术后晚期晶状体囊袋阻滞综合征仅晶状体后囊膜混浊、增厚,采用Nd:YAG激光后囊膜切除术;1例术后晚期晶状体囊袋阻滞综合征伴有人工晶状体前、后表面光学部纤维增殖膜,采用Nd:YAG激光人工晶状体前后囊膜切除术后再行晶状体后囊膜切除术.结果:患者7例经Nd:YAG激光治疗后均恢复较好视力,未见严重并发症.结论:根据术后囊袋阻滞综合征临床特征采取相应的Nd:YAG激光治疗安全有效.     

Sj?gren's syndrome beyond the eye

Sj?gren's syndrome is a common systemic disease with major clinical manifestations in the eye, mouth and musculoskeletal system. The major clinical presentations of Sj?gren's syndrome are reviewed with emphasis on diagnostic criteria, laboratory features, complications and treatment.     

Systemic and ophthalmological findings in Cornelia de Lange syndrome

Cornelia de Lange Syndrome (CdLS, de Lange syndrome, Brachmann-de Lange syndrome), is a relatively rare genetic disorder, characterized by set of clinical abnormalities concerning different organs and systems. Phenotypic diagnosis is based on a specific dysmorphic features seen after the birth. We described a genetic basis, hereditary patterns, characteristic dysmorphic features and the most common clinical findings of patients Cornelia de Lange Syndrome concerning eye and vision, hearing, cardiovascular, respiratory, gastrointestinal, genitourinary, skeletal and psychomotor development.     

Posner-Schlossman syndrome]

The clinical features of Posner-Schlossman syndrome and the various differential diagnoses are described in a 20-year-old patient. Additional to Posner-Schlossman syndrome this patient showed signs of Axenfeld's anomaly. He also presented symptoms of a status-dysrhaphicus-like state after atrial septal defect and the ability to overstrain the distal finger joints. Posner-Schlossman syndrome, heterochromic cyclitis, anterior-chamber cleavage syndrome and ICE syndrome (iridocorneal-endothelial syndrome: Chandler's, Cogan-Reese syndrome and progressive essential iris atrophy) often produce similar effects at the Descemet membrane, the anterior chamber angle and the iris. Because of the same mesodermal origin of these tissues we suggest that all the diseases mentioned above are merely different clinical expressions of one main disease.     

Sjögren's syndrome beyond the eye

Sjögren's syndrome is a common systemic disease with major clinical manifestations in the eye, mouth and musculoskeletal system. The major clinical presentations of Sjögren's syndrome are reviewed with emphasis on diagnostic criteria, laboratory features, complications and treatment.     

虹膜角膜内皮综合征的临床研究现状

虹膜角膜内皮综合征(ICE综合征 )是关于角膜内皮异常改变和虹膜萎缩等病变的一组疾病。常见于中青年女性,多单眼发病,一般不涉及遗传倾向,早期无症状时无需治疗,当并发角膜水肿、青光眼时,主要采用对症治疗。在这组疾病中,其病因、临床表现、治疗等皆有许多相同点,也有一些相异之处,国际上尚未形成统一的标准,因此本文就ICE综合征的临床研究现状进行综述。