儿童Marfan综合征的临床表现和眼部并发症的防治

目的 分析马凡综合征的临床表现和眼部并发症的防治情况。方法 对儿童16例马凡综合征的临床资料进行回顾性分析。结果 16例患者中晶状体脱位占100％，视网膜脱离占12．5％。心血管异常占43．75％。体形高瘦、蛛状指占50％，有家族史占31％。行晶状体摘除和人工晶状体植入术后。患儿视力均得到不同程度的提高。结论 对可疑马凡综合征的儿童。应及时全身检查，对相关项目综合分析。脱位品状体的早期摘除和人工晶状体植入可有效防止患儿青光眼、色素膜炎和弱视并发症的发生。     

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 …     

马凡氏综合征合并视网膜脱离的联合手术治疗

马凡氏综合征合并视网膜脱离的联合手术治疗西安市第四医院眼底病研究室石一宁笔者临床上遇到２例马凡氏综合征并视网膜脱离，晶体脱位，临床表现较特殊，故报告如下。例１马ＸＸ，男，１９岁；以左眼视障３月入院。诊断为视网膜脱离、晶体混浊及脱位。查：身高’１８ｈｏ...     

囊袋张力环在马凡综合征超声乳化手术中的应用

目的　探讨囊袋张力环在马凡综合征合并白内障晶状体半脱位手术中的作用。方法　 18例 ( 2 9眼 )马凡综合征合并白内障晶状体半脱位接受超声乳化吸出术 ,将囊袋张力环植入晶状体囊袋后 ,再植入后房型人工晶状体。结果　术后随访 6～ 18月 ,2 7眼 ( 93 .1% )保持了良好的居中性。术后 1月最佳矫正视力≥ 0 .7者 2眼 ,0 .3～ 0 .6者 2 2眼 ,<0 .3者 5眼。未发生视网膜脱离等严重并发症。结论　囊袋张力环应用于马凡综合征合并晶状体半脱位超声乳化手术 ,不仅可以提高手术的安全性 ,防止人工晶状体偏位 ,而且保留了完整的晶状体后囊 ,避免或减少玻璃体脱出 ,有效地减少了马凡综合征患者视网膜脱离的危险性     

马凡综合征合并视网膜脱离的手术治疗

目的探讨马凡综合征合并视网膜脱离患者在不同手术方式的治疗下其视网膜解剖复位率和视功能恢复的结果。方法回顾性的分析14例(16只眼)马凡综合征患者的手术资料。其中有12只眼行巩膜扣带环扎术,4只眼行巩膜扣带环扎联合晶状体玻璃体切除术。手术结果的评估指标包括视网膜的解剖复位率以及视功能是否提高。结果行单纯巩膜扣带环扎术的12只眼中1次手术网膜复位率为91.7%(11/12),行巩膜扣带环扎联合晶状体玻璃体切除术的4只眼中1次手术网膜复位率为75%(3/4),但行2次手术后,术后8个月时随访,14例患者的16只眼达到100%解剖复位。术后最佳矫正视力达0.05以上有12只眼。结论马凡综合征合并视网膜脱离的手术治疗应根据裂孔的位置和视网膜脱离的情况来选择手术的方式。     

孔源性视网膜脱离危险因素的病例对照研究

目的　确定近视、白内障手术、钝性眼外伤和家族史是否为孔源性视网膜脱离的危险因素。方法　 1∶1配比的病例对照研究。以北京市 1999～ 2 0 0 0年新发生的孔源性视网膜脱离患者 2 0 0例作为研究对象。随机选择同期我院非眼科住院患者 ,与病例居住地、性别、年龄相匹配者作为对照。对各因素的比值比 (OR值 )和人群归因危险度百分比(PARP)进行分析。结果　钝性眼外伤、近视和白内障手术OR值分别为 6 5 5 (95 %CI ,2 65～ 2 5 3 2 ,P <0 0 1)、5 3 4(95 %CI ,2 2 7～ 6 69,P <0 0 1)和 2 1(95 %CI ,3 3 5～ 99,P <0 0 1) ;其PARP分别为 12 %、62 %和 9 1%。家族史OR值为 3 (95 %CI ,0 2 4～ 99,P >0 0 5 )。结论　钝性眼外伤、近视和白内障手术为孔源性视网膜脱离的危险因素 ,未发现家族史与孔源性视网膜脱离之间存在关联     

先天性白内障术后视网膜脱离

目的 :探讨先天性白内障术后视网膜脱离的特点、治疗效果及其影响因素。方法 :回顾分析 2 7例 2 7只眼先天性白内障术后视网膜脱离的临床资料。结果 :视网膜完全复位 2 0只眼 ,占 74 1% ;限局脱离 4只眼 ,占 14 8% ;完全脱离 3只眼 ,占 11 1%。术后视力 0 0 2以下者 8只眼 ,占 2 9 6% ;0 0 2～ 0 0 4者 6只眼 ,占 2 2 2 % ;0 0 5～ 0 0 9者 7只眼 ,占 2 5 9% ;0 1者 3只眼 ,占 11 1% ;0 2者 3只眼 ,占 11 1%。结论 :先天性白内障术后视网膜脱离经手术治疗可以取得较好的效果。增生性玻璃体视网膜病变 (PVR) ,尤其是前部增生性玻璃体视网膜病变 (aPVR)是影响手术预后的主要原因。     

黄斑裂孔合并周边裂孔视网膜脱离的手术治疗

黄斑裂孔特别是合并周边裂孔的视网膜脱离 ,由于手术方式选择不当可产生严重的增殖膜 ,裂孔不能有效封闭 ,不能有效的缓解牵引 ,往往导致手术的失败 ,本文总结了 40例黄斑裂孔合并周边裂孔视网膜脱离病例的治疗情况 ,分析如下。一、资料与方法1.对象 :本组患者均为黄斑裂孔合并周边裂孔视网膜脱离 ,共 40例 40眼 ,男性 2 5例 (占 6 2 .5 % ) ,女性 15例 (占37.5 % ) ,平均年龄 47.8岁 (2 3～ 72岁 )。病程 2周～ 12月 ,平均 6 2天 ,其中 <30天 12例 ,30～ 5 9天 11例 ,≥ 6 0天 17例。屈光状态 :正视眼 2眼 ,- 6 D以下近视 17眼 ,- 6 D以上…     

Alport综合征眼部临床表现分析

目的:总结Alport综合征的临床表现,尤其是眼部特征。方法:回顾性分析32例被确诊为Alport综合征患者的内科、耳鼻喉科和眼科检查结果。结果:患者30例(93.7%)有疾病家族史。所有患者均有不同程度的肾脏病变:18例(56.3%)有肾功能衰竭,4例(12.5%)肾功能不全,10例(31.3%)血尿。患者20例(62.5%)有感音神经性耳聋。患者13例(40.6%)有眼部异常表现,其中5例(15.6%)为典型性改变:前圆锥晶体3例,黄斑周围斑点2例。结论:眼部异常不是Alport综合征诊断的必需条件,但因其典型的眼科表现应当引起眼科医师的注意,以便早期诊断治疗。     

眼科手术后斜视和复视的临床分析

目的　探讨眼科手术后继发性斜视的发生机制和防治方法。方法　检查 79例不同眼科手术后发生继发性斜视患者的眼位、眼球运动、复视及预后情况 ,并进行牵拉试验。对部分患者行斜视矫正术 ,术中观察眼部受累组织的情况。结果　在全部患者中 ,视网膜脱离术后患者占 38 0 %(30 / 79) ,白内障摘除手术后患者占 31 7% (2 5 / 79) ,眼眶手术后患者占 13 9% (11/ 79) ,其他为青光眼、翼状胬肉及上睑下垂术后患者。视网膜脱离手术和白内障摘除手术后部分继发性斜视症状持续时间 >6个月的患者 ,受累肌纤维化并 (或 )与结膜、巩膜及外加压物广泛粘连 ,牵拉试验呈阳性 ;眼眶手术后患者眼球主要表现为牵制性运动障碍 ;翼状胬肉切除术后患者内直肌及其周围组织损伤明显 ;抗青光眼手术后患者继发性斜视症状于术后 2～ 14d自行缓解。结论　内眼和外眼手术均可导致继发性斜视的发生 ;斜视的发生机制主要包括眼肌损伤、限制及机械压迫 3个因素。眼科手术医师应高度重视 ,积极采取针对性预防和治疗措施。     

Results of retinal detachment surgery in Marfan syndrome in asians

PURPOSE: To report the anatomic and visual results of retinal detachment in patients with Marfan syndrome in an Asian population. METHOD: A retrospective review of all patients with Marfan syndrome and retinal detachment operated on by a single surgeon was conducted. RESULTS: Thirteen eyes of 12 patients were reviewed. Eleven patients were males, with an average age of 24.6 years. Three eyes had a history of trauma. Ten eyes were successfully treated with scleral buckle and encircling band. Three eyes were also treated with vitrectomy, scleral buckle, and encircling band. One hundred percent success was achieved with only one surgery. Best-corrected visual acuity of at least 20/40 was achieved in 7 of 12 eyes (58.3%). Eight of 12 eyes (66.7%) had at least two lines of improvement on the Snellen chart after 6 months. CONCLUSIONS: With appropriate surgical intervention, an excellent anatomic reattachment rate and good visual outcome can be achieved in Marfan syndrome patients with retinal detachment regardless of their lens status.     

Marfan综合征伴孔源性视网膜脱离

目的：分析Marfan综合征伴孔源性视网膜脱离眼发病特征与治疗原则。方法：回顾并随访了1998年至2001年间上海市第一人民医院进行视网膜脱离手术治疗的10例12眼。结果：平均随访5．2个月，总的视网膜解剖复位率83．3％(10／12)，其中只作巩膜外手术7眼，复位率100％，玻璃体手术5眼，复位率60％。视力提高7眼(58．3％)。结论：仔细采用多种方法检查可以提高术前裂孔检出率。经巩膜环扎加压手术可以有效处理简单视网膜脱离眼，而毋实施玻璃体手术联合晶体摘除术。治疗中需加倍警惕对侧眼病变。     

Retinal detachment in Marfan syndrome: clinical characteristics and surgical outcome

PURPOSE: To describe the clinical characteristics of retinal detachments in patients with Marfan syndrome and report the surgical outcome of vitreoretinal surgery. METHODS: Records relating to 53 eyes of 45 patients with Marfan syndrome who underwent surgery for rhegmatogenous retinal detachment were reviewed. Of the 53 eyes, 24 (45.3%) underwent scleral buckling as the first procedure and 29 (54.7%) underwent vitrectomy surgery with scleral buckle as the first procedure. Main outcome measures included clinical characteristics of retinal detachment, reattachment rates, and functional improvement in vision. RESULTS: Characteristic findings included total retinal detachment in 40 (75.5%) eyes, atrophic holes in 24 (45.3%) eyes, more than four retinal breaks in 21 eyes (39.6%), preequatorial and postequatorial breaks in 20 (37.7%) eyes, giant retinal tears in six (11.3%) eyes, and proliferative vitreoretinopathy (posterior, anterior, or both) in nine (17%) eyes. In 30 (56.6%) eyes, retinal breaks were located only in the temporal half of the retina. Of the 24 eyes with myopia, 13 (54.2%) had a myopic correction greater than 7 diopters. At the median follow-up of 10.7 months, complete retinal reattachment was obtained in 87.6% and 86.2% of patients undergoing scleral buckling (including additional procedures such as vitrectomy) and vitrectomy surgery, respectively. In eyes with reattached retinas, a final visual acuity of 20/200 or better was obtained in 81% of the patients after scleral buckling and in 56% of the patients after vitrectomy surgery (P = 0.07). CONCLUSIONS: Retinal detachment in Marfan syndrome is complete in 75% of the eyes. More than half (56%) the eyes had a retinal break only in the temporal half of the retina, and 83% had at least a break in the temporal half of the retina. Currently available vitreoretinal surgical techniques result in successful reattachment of the retina in approximately 86% of the eyes.     

Ophthalmic findings in apert syndrome prior to craniofacial surgery

PURPOSE: To determine ophthalmic findings in patients with Apert syndrome before craniofacial surgery. DESIGN: A cross-sectional retrospective study. METHODS: Review of 63 cases (27 males, 36 females) with Apert syndrome without craniofacial surgery from the Australian Craniofacial Unit. Demographic data, age of presentation, and ophthalmic findings at the first presentation were recorded. RESULTS: At a mean age of four years and median age of one year, at least 14% of patients had amblyopia, 60% of patients had strabismus, 19% of patients had anisometropia, and 34% of eyes had ametropia. Exposure keratopathy and corneal scarring occurred in at least 13% of patients and optic atrophy in at least 8% of patients. CONCLUSIONS: This study demonstrated that patients with Apert syndrome were at risk of amblyopia because of high prevalence of refractive errors, strabismus, and anisometropia. Exposure keratopathy and corneal scarring occurred commonly.     

Sensitivity to retinal light damage and surgical blood oxygen levels

Increased oxygen levels decrease the threshold for photochemical retinal damage. We measured arterial oxygen levels in a group of ophthalmic surgical patients. As expected, levels exceeded unanesthetized measurements by one to two times. Based on experimental data, this could decrease the threshold for light-induced retinal damage during ophthalmic surgery by 40% to 50%. While the clinical implications of light-induced retinal damage in surgical eye patients are unclear, it is prudent to take steps to minimize light exposure during surgery.     

Artisan aphakic intraocular lens implantation in cases of subluxated crystalline lenses due to Marfan syndrome

PURPOSE: To assess implantation of an Artisan aphakic intraocular lens (IOL) in cases with subluxated lenses due to Marfan syndrome. METHODS: Retrospective study of a small case series comprised of seven eyes (two children and three adults) with subluxated lenses due to Marfan syndrome that underwent lens extraction and Artisan aphakic IOL implantation. Best spectacle-corrected visual acuity and endothelial cell status were the key elements of follow-up examinations. RESULTS: No complications occurred during surgery. Visual acuity was improved by > or = 4 Snellen lines in all seven eyes. These results were maintained at the last follow-up. Endothelial cell status remained constant in all cases at 6-month follow-up. CONCLUSIONS: In seven eyes with a subluxated crystalline lens due to Marfan syndrome, implantation of an Artisan aphakic IOL improved visual acuity while preserving anterior chamber status.     

Clinical profile and outcome of ocular manifestation in Marfans syndrome in India

Purpose:Marfan syndrome (MFS) is a genetic disorder associated with considerable morbidity and mortality. Presently, well-documented information on this condition is not available in India.Methods:In this retrospective cohort study, we recruited patients with clinically diagnosed MFS who presented to the outpatient department using revised Ghent nosology. We retrieved complete ophthalmic information, including vision, anterior and posterior segments, exported from electronic medical records, and relevant investigations, surgical details, and follow-up data were obtained in a specific, pretested format.Results:Our cohort consisted of 86 eyes of 43 patients and had a male preponderance. The prevalence was 20.5 per 100,000 individuals. The mean age of the patients was 23.9 years. All eyes were treated either optically with refraction or surgically using lensectomy and vitrectomy with suture supported scleral fixated intraocular lens (IOL), which significantly affected the visual outcome (P = 0.000).Conclusion:Although considered a rare disease, MFS is commonly found in the ophthalmological setting. Refraction and surgery (lensectomy with scleral fixated IOL) may improve the vision significantly.     

Presenting signs and clinical diagnosis in individuals referred to rule out Marfan syndrome

Objective: To evaluate presenting signs and clinical diagnosis in a cohort of patients referred to rule out Marfan syndrome. Methods: A retrospective chart review was performed on patients referred to the Cleveland Clinic Foundation between November 1993 and July 2001 to rule out Marfan syndrome. Clinical findings necessary for the diagnosis of the disorder according to current criteria (De Paepe et al., Am J Med Genet. 1996;62:417-426) were determined through complete physical examination and testing, including an echocardiogram and a slit-lamp examination. Information regarding age, sex, reason for evaluation, family history, symptoms, and ultimate clinical diagnosis were extracted from the charts. Results: Seventy-five patients averaging 23.5 years of age completed a comprehensive evaluation to rule out Marfan syndrome. A clinical diagnosis of this condition was made in 28 (37%) patients (12 males, 16 females). Reasons for referral included one or more of the following: (1) the finding by a physician of one or more typical clinical manifestations of the disease; (2) a known family history of the syndrome; and/or (3) curiosity on the part of the patient or family as a result of publicity about Marfan syndrome in lay or medical journals or in television programs. Twenty-eight individuals (37% of the total group) were referred because of skeletal findings common to the syndrome. Of these, 10 (36%) were diagnosed with the disease. Seven (78%) of the nine patients who presented with ocular signs or symptoms were ultimately diagnosed with the disorder. Of the 22 individuals referred because of cardiovascular signs or symptoms, nine (41%) were diagnosed with Marfan syndrome. Twelve (31%) of 39 individuals with a known family history of Marfan syndrome or symptoms common to this condition had a positive diagnosis. Of six individuals evaluated in response to publicity about the disease, two (33%) were ultimately diagnosed with the disorder. Conclusion: The most common reasons for evaluation to rule out Marfan syndrome include a positive family history of the condition and the presence of one of its common manifestations (e.g., body habitus, cardiac abnormalities, or subluxated lenses). In the present series of patients, the physical finding that predicted the diagnosis most was subluxation of the ocular lens.