Waardenburg综合征一家系

Waardenburg综合征,又称胚胎同定性综合征,是一种少见的常染色体显性遗传病.临床表现皮肤、毛发、眼及耳廓血管等处色素细胞缺失而出现的一组表现特证.眼部表现有睑裂小、眦位置异常、眉毛并连、虹膜色素异常、虹膜发育不全、视网膜色素脱失、小眼球、屈光不正等;全身表现有先天性单侧或双侧耳聋、短头白发、皮肤白斑等表现.     

眼皮肤白化病的临床表现及研究进展

白化病是一种遗传病,主要表现为色素缺失而造成的全身各部位的异常.根据临床表现白化病可分为眼皮肤白化病、眼白化病以及白化病相关综合征.本文主要综述了眼皮肤白化病的临床表现以及各型基因研究的进展.     

Lyme病眼部表现30例分析

报告３０例Ｌｙｍｅ病，它是由蜱传播的一种传染性流行病，侵犯人体多数系统，累及皮肤神经，心血管，关节和眼等。早期眼部表现有结膜炎，后期主要为色素膜炎。诊断主要依据病史，临床表现和实验室检查。本病应与梅毒的眼部病变鉴别。早期口服抗生素可治愈，晚期需大剂量抗生素静脉滴注治疗。有１６％的复发病。长期全身使用激素会预先造成病人对抗生素失效。使用适量激素可促进眼部炎症消退和防止并发症。     

眼部缺血综合征的临床及荧光素眼底血管造影特征

目的探讨眼部缺血综合征(ocularischemicsyndrome,OIS)的临床及荧光素眼底血管造影(FFA)的表现特征。方法收集经临床及FFA确诊的OIS患者8例8眼,分析总结其临床表现和FFA表现。结果8例患者年龄38-69岁,男性5例,女性3例。所有病变眼均表现为视网膜动脉狭窄,静脉扩张但不纡曲,均可见多少不一的视网膜棉絮斑,FFA表现为臂-视网膜循环时间延长,视网膜血管及视盘渗漏。虹膜细小新生血管2眼。结论OIS多发于中老年人群,眼底表现为视网膜动脉狭窄及棉絮斑,FFA表现为视网膜动脉充盈时间延长,视网膜血管及视盘渗漏。多与全身疾病有关联。     

侵犯角膜的神经纤维瘤病

Ⅰ型神经纤维瘤病（ｎｅｕｒｏｆｉｂｒｏｍａｔｏｓｉｓ,ＮＦ１）,即是没有颅神经损害的ＶｏｎＲｅｃｋｌｉｎｇｈａｕｓｅｎ病（ＮＦ１）。临床上以皮肤牛奶咖啡斑、骨骼发育异常和全身多系统神经纤维瘤性损害为特征,眼部受累多见。按发生频率侵犯的眼组织依次为虹膜、眶骨、眼睑、眼外肌、结膜及巩膜,角膜受累罕见。本文报告一个有角膜损害的典型病例,并讨论了ＮＦ１对眼部的危害。患者女,１６岁,因左上睑下坠９年于１９９８年１２月就诊。患者自幼躯干多量色素斑,３岁偶然发现左颞部有一包块隆起,７岁开始左上眼睑及双面部逐渐…     

278例人类免疫缺陷病毒感染患者的眼部表现

目的探讨人类免疫缺陷病毒（HIV）感染患者眼部表现的特点,为早期诊断、及时治疗提供依据。方法回顾性分析2002年9月至2004年7月中非共和国278例HIV感染患者的临床资料,对眼部病变病程、症状、体征、全身情况及首诊病因进行分析。结果102例（36．7％）HIV感染患者眼部有病变表现,同时伴慢性全身消耗性症状和体征,CD4细胞值降低。其中20例（7．2％）患者将眼部病变作为首诊的病因。眼部病变表现为机会性感染和肉瘤形成,依次为HIV视网膜病变、葡萄膜炎、眼外肌麻痹、眼部带状疱疹及眼睑卡波济肉瘤等。HIV视网膜病变不具特异性,表现为视网膜出血、棉絮状斑、血管闭塞、视网膜坏死、视网膜脱离及视神经萎缩等。结论HIV感染后可出现多种眼部病变,严重视网膜、葡萄膜病变是造成患者失明的重要因素。我国HIV感染患者日益增多,其早期症状和体征应引起眼科医师的高度关注。     

眼部碱烧伤综合治疗36例临床观察

目的 探讨眼部碱烧伤综合治疗的效果。方法 对1994～2001年眼部碱烧伤36例(59眼)的综合治疗,包括立即彻底冲洗结膜囊、清除致伤物、中和毒物、散瞳、局部及全身应用抗生素,手术等综合治疗。结果 Ⅰ度角膜烧伤17眼及Ⅱ度烧伤29眼全部治愈。Ⅲ度烧伤11眼中3眼治愈后留有角膜薄翳或斑翳。Ⅳ度烧伤2眼中1眼留有角膜斑翳,另1眼角膜白斑伴新生血管。视力恢复情况:治疗前视力均<0.3,治疗后随访3～6月,视力0.5以上者53眼占89.8%,0.2～0.4者5眼占8.5%,<0.1者1眼占1.7%。结论 眼碱烧伤的综合治疗可取得满意的效果。     

鼻咽癌放疗术后眼部并发症的临床分析

目的：探讨鼻咽癌放疗术后眼部并发症的临床特点、荧光素及吲哚菁绿血管造影特征、影响因素及其诊治方法。

方法：回顾性分析2007-03/2012-03我院眼科收治的因鼻咽癌放疗后视力下降的患者33例63眼的临床资料。

结果：所有患者均以进行性、无痛性单眼或双眼视力下降为主要临床表现。放射性视网膜病变48眼,其中视网膜中央动脉阻塞2眼,视网膜中央静脉阻塞3眼,色素上皮改变2眼,黄斑前膜1眼,其余40眼均出现后极部棉絮斑及出血。放射性视神经病变36眼,其中视神经边界清晰27眼,视神经边界不清9眼。黄斑区典型性脉络膜新生血管2眼,脉络膜转移灶1眼,脉络膜循环异常4眼,前部葡萄膜炎2眼,玻璃体积血7眼。

结论：鼻咽癌放疗术后眼部并发症复杂多样,最常见放射性视网膜病变和放射性视神经病变,少数表现为黄斑部脉络膜新生血管、动静脉阻塞、脉络膜循环异常等。     

65例Behcet病临床分析

目的进一步认识眼型Behcet病的临床特征。方法回顾性总结1992年9月～2003年9月问，以眼部损害为主要表现前来我院就诊的65例Behcet病患者的临床资料，从首发表现、眼部及眼外表现、眼底荧光血管造影(FFA)和临床疗效特点诸方面进行分析．结果本组未见眼部损害为首发表现者。首发临床表现以口腔溃疡居首位(80．0％)，口腔溃疡发生率占100％．FFA以视网膜主干血管及视盘渗漏为主者，病势较轻，预后良好；以视网膜微血管渗漏为主者，病势较重；伴视网膜出血及棉绒状斑者，病势最为凶险。表现为前部葡萄膜炎及角膜炎者预后较好。结论对眼部及眼外病变的全面正确认识是及时诊断治疗Bchcet病的关键。     

眼局部用药对外眼的副作用(续)

眼局部用药通过各种机理对外眼产生不良副作用,这些机理有免疫学、光免疫学或光毒性、刺激性或中毒性、蓄积性沉着、黑色素变异以及微生物平衡紊乱等。眼球或眼部组织对这些药物反应不同,表现为皮肤改变,乳头滤泡性、角化或瘢痕化结膜炎,上皮性、溃疡性、新生血管形成或瘢痕化角膜炎,色素过多症或色素过少症,以及感染并发症。临床工作者必须对这些问题或对因治疗而产生的医源性疾病经常保持警惕。本文目的是希望促使对眼局部用药的副作用有更好的预防、认识和治疗。     

Iris melanocytoma mimicking the Cogan-Reese syndrome with monocular pigment dissemination

PURPOSE: To report a case of iris melanocytoma mimicking the Cogan-Reese syndrome. METHODS: A 37-year-old woman presented with pigmentary glaucoma in her left eye. There was diffuse pigmentary dispersion in the anterior segment, pedunculated pigmented nodules on the anterior iris surface, mild iris atrophy, and ectropion iridis. Neither intrinsic vasculature nor a sector cataract was found. The angle was open with marked trabecular pigmentation and no anterior synechiae. The intraocular pressure was 30 mmHg with maximum medical treatment and there was glaucomatous optic atrophy. The differential diagnosis included iris pigmented tumor and iridocorneal endothelial syndrome (Cogan-Reese syndrome). An iris biopsy was performed for diagnostic purposes. RESULTS: Histologic diagnosis after evaluation of the specimen was iris melanocytoma. CONCLUSIONS: This case presents signs considered quasi-pathognomonic of iridocorneal endothelial syndrome (Cogan-Reese syndrome): glaucoma, mild iris atrophy associated with pedunculated iris nodules, and ectropion iridis. Therefore, iris melanocytoma can present with features that mimic the Cogan-Reese syndrome.     

虹膜角膜内皮综合征12例的临床观察和分析

目的：分析虹膜角膜内皮综合征( iridocorneal endothelial syndrome,ICE综合征)的临床特点及发病机制,探讨其治疗及预后。
　　方法：选择2007-06/2015-02在第三军医大学附属西南医院住院治疗的12例12眼ICE综合征患者,其中原发性进行性虹膜萎缩7眼,Chandler综合征3眼,Congan-Reese综合征2眼。对所有患者的临床资料进行回顾性分析及随访。
　　结果：所有患者中,8眼行一次或多次滤过手术,4眼仅行青光眼阀门植入术。术后随访时间为15mo ~5a,平均30mo。12眼患者中,4眼抗青光眼术后眼压升高的时间为3~16(平均10)mo,远期观察眼压控制不佳。
　　结论：ICE综合征是一组临床上比较少见的严重眼病,其基本病变为角膜内皮层存在的ICE细胞过度增生导致房角粘连、虹膜萎缩及继发性青光眼等,目前青光眼滤过手术及青光眼阀门植入术只能在术后早期控制眼压,但远期效果不佳。     

Secondary glaucoma due to progressive iris atrophy--a century after the first description. Case report

The iridocorneal endothelial syndrome (ICE) consists of some disorders, like: progressive essential iris atrophy, Chandler disease and the iris nevus syndrome that are characterized by corneal endothelium proliferation and migration, iris atrophy, corneal oedema and/or pigmentary iris nevi. Secondary, refractory glaucoma affects about 50% of patients with progressive essential iris atrophy. Medication of glaucoma is only initially effective. Some conventional filtering surgeries, to control glaucoma are often unsuccessful. Presented case of our patient with primary essential iris atrophy, with secondary glaucoma shows surgical problems. Multiple filtration surgery with or without antiproliferative agents turn out not to be sufficient. In conclusion, intraocular pressure was effectively lowered with iridocleisis technique.     

Unilateral glaucoma in Sotos syndrome (cerebral gigantism)

PURPOSE: To report a patient with unilateral glaucoma associated with Sotos syndrome. Sotos syndrome (cerebral gigantism) is a disorder of growth and development with characteristic facial changes and normal endocrine function. Ocular manifestations may also include megalocornea, iris hypoplasia, cataracts, megalophthalmos, strabismus, nystagmus, and retinal dystrophy. METHODS: Case report. A 50 year-old man with the clinical features of Sotos syndrome presented with complaints of decreased vision in the left eye. RESULTS: Ophthalmologic examination revealed bilateral megalocornea, megalophthalmos, iris hypoplasia and transillumination defects, cataracts, and unilateral glaucoma. Intraocular pressure was lowered, and visual field loss was stabilized with topical medications. CONCLUSION: Sotos syndrome patients should be examined routinely to allow for early detection and treatment of potential ocular problems, including glaucoma.     

Pigment dispersion syndrome and pigmentary glaucoma – a major review

Pigment dispersion syndrome (PDS) is an interesting condition that can lead to secondary open angle glaucoma. Pigmentary glaucoma is primarily a disease of young people, myopes and men. PDS is characterized by the presence of Krukenberg spindles, iris trans‐illumination defects, trabecular meshwork pigmentation and backward bowing of the iris. Posterior bowing of the iris causes rubbing of the pigmented iris epithelium against lens structures, liberation of pigment and trabecular meshwork changes that result in reduced aqueous outflow with the risk of glaucoma. Peripheral laser iridotomy can reverse backward bowing of the iris and may prevent progression of pigmentary glaucoma.     

Clinical signs of the pseudoexfoliation syndrome

Pseudoexfoliation syndrome (PXS) is a common cause of glaucoma throughout the world. It is most commonly diagnosed after the observation of pseudoexfoliation material (PXM) on the anterior lens surface. However, there are numerous clinical signs of PXS that should alert the examiner to search carefully for PXM on the anterior lens surface. These include pupillary ruff defects, iris sphincter transillumination, a characteristic whorl-like pattern of particulate pigment deposition on the iris sphincter, particulate pigment deposition on the peripheral iris and trabecular meshwork, and exfoliation material on the zonules and ciliary body. Accuracy of diagnosis is important for purposes of treatment, prognosis, and basic research in he mechanisms of glaucoma, particularly tissue culture.     

Morphologie, Familienanamnese und Diagnosezeitpunkt bei 26 Patienten mit Axenfeld-Rieger-Syndrom und Glaukom oder okulärer Hypertension

PURPOSE: The Axenfeld-Rieger syndrome (ARS) shows genetic and morphologic heterogeneity and is associated with glaucoma in 50% of the patients. METHODS: Ocular, dental, and systemic anomalies, maximum intraocular pressure (IOPmax), frequency of ARS or glaucoma in the family history (FH), and age at diagnosis (AAD) of 26 consecutively examined patients with ARS and glaucoma or elevated IOP were evaluated retrospectively. RESULTS: In 65.4% of the patients hypoplasia of the iris was found. Almost 50% of the patients had systemic anomalies, dental anomalies being the most frequent. Of 26 patients, 12 (46.2%) had an ARS in the FH; 57.7% of the patients had a FH of glaucoma with or without ARS. No significant differences in IOPmax and frequency of iris hypoplasia and glaucoma surgery were found when patients with and without ARS in their FH and patients with and without iris hypoplasia were compared. CONCLUSION: Patients with iris hypoplasia and patients with ARS and/or glaucoma in the FH do not show a worse glaucoma prognosis than patients without iris hypoplasia or without a FH of glaucoma or ARS. ARS was diagnosed within the 1st year of life in approximately half of the patients. Therefore, children of ARS patients should be screened as soon as possible to improve early diagnosis of ARS and glaucoma and to improve glaucoma prognosis. As the dental and facial anomalies may require treatment in the first dentition, patients with ARS should be referred to a dentist or orthodontist.     

以虹膜萎缩为特征的继发性青光眼治疗方案的探讨

目的：分析以虹膜萎缩为特征的继发性青光眼的临床分类及疗效。方法：回顾性系列病例研究。收集2013年7月至2020年1月于石家庄市人民医院收治的以虹膜萎缩为特征的继发性青光眼患者60例（70眼），年龄26~67（50.0±10.4）岁，其中男32例（36眼），女28例（34眼）。随访12个月，观察患者最 佳矫正视力（BCVA）、眼压、抗青光眼药物的变化，分析其临床分类及治疗效果。采用重复测量设计资料的方差分析、Wilcoxon符号秩和检验对数据进行分析。结果：70眼中，患有葡萄膜炎的有54眼，Fuchs综合征10眼，角膜内皮炎6眼；虹膜弥漫性萎缩44眼，局限性萎缩26眼；经房水检测的有30眼，其中10眼房水病毒IgG抗体呈阳性，20眼房水白细胞介素-6（IL-6）、白细胞介素-8（IL-8）、白细胞介素-10（IL-10）、血管内皮生长因子（VCAM）升高。本研究患者采用青光眼药物治疗的有20眼，采用YAG激光周边虹膜切除术治疗的有12眼，采用青光眼手术治疗的有38眼。随访12个月，70眼治疗前后BCVA差异具有统计学意义（F=24.04，P<0.001），治疗后1个月视力最好，治疗后3个月趋于平稳；治疗前后眼压差异具有统计学意义（F=445.16，P<0.001），治疗后1个月眼压最低，之后逐渐回升，治疗后3个月趋于平稳；治疗后抗青光眼药物明显减少，差异有统计学意义（Z=-7.28，P<0.001）。结论：病毒性葡萄膜炎仍是以虹膜萎缩为特征的继发性青光眼的主要病因。在积极控制眼内炎症及抗病毒的基础上，降眼压药物和（或）YAG激光周边虹膜切除术对于首次发作、虹膜粘连时间短者疗效显著；对于反复发作、青光眼性损害较重者行抗青光眼手术治疗。     

Anomalies associated with Axenfeld-Rieger syndrome

· Background: To detect the associated anomalies in patients with Axenfeld-Rieger syndrome is clinically important, because early treatment for such anomalies is crucial to both visual and systemic development. This study was conducted to clarify the associated anomalies in the syndrome. · Methods: We evaluated 21 patients with Axenfeld-Rieger syndrome encountered at Nagoya City University Hospital over a 16-year period. Patients who presented with a prominent Schwalbe’s line accompanying the iris strands were diagnosed as having Axenfeld-Rieger syndrome. · Results: The series consisted of 9 males and 12 females, ranging in age from 1 month to 41 years, mean 15.4±12.7 (SD) years. The syndrome was bilateral in 17 cases and unilateral in 4 cases. Hypoplasia of the iris was observed in 10 eyes of 6 patients. The associated ocular anomalies included sclerocornea in 6 eyes of 3 patients, developmental glaucoma in 5 eyes of 3 patients, persistent pupillary membrane in 4 eyes of 2 patients, microphthalmos in 3 eyes of 2 patients, and typical iris coloboma in 1 eye. Of 10 eyes with hypoplasia of the iris, 5 exhibited glaucoma. The accompanying systemic anomalies included 9 cases of dental anomalies, 5 of facial anomalies, and 3 of Alagille syndrome. · Conclusions: All of the associated ocular and systemic anomalies appeared to arise from the maldevelopment of the neural crest cells. Patients with Axenfeld-Rieger syndrome should therefore be examined for the presence of anomalies in the tissues of neural crest origin. Patients with hypoplasia of the iris should be checked for glaucoma. Received: 20 August 1998 Revised version received: 30 November 1998 Accepted: 1 December 1998     

Pathophysiology of pigment dispersion syndrome and pigmentary glaucoma

Pigmentary glaucoma results from zonular-pigment dispersion, primarily in young, myopic, white individuals. The concavity of the midperipheral iris allows iridozonular contact. Released pigment is carried to the trabecular meshwork where it resides: (1) benignly, not affecting the intraocular pressure, as in pigment dispersion syndrome; or (2) malignantly, elevating the intraocular pressure, as in pigmentary glaucoma. Small amounts of pigment are quickly phagocytized. If the particulate load is heavy, the cells migrate further along the outflow pathway. The flattening of the iris in pigmentary glaucoma patients receiving iridotomies, along with the backward flow of pigment observed during treatment, demonstrates a greater pressure in the anterior than the posterior chamber. This reverse pupillary block may be due to temporary ocular deformations caused by blinking, as small aqueous aliquots are forced into the anterior chamber. Flattening of the concave iris is the key to current and future management of these patients.