Retinal detachment in identical twins with Stickler syndrome type 1.

BACKGROUND: The high incidence of retinal detachment and its poor surgical prognosis in patients with Stickler syndrome are well known. However, the vitreoretinal relation to retinal detachment in this syndrome is uncertain. METHODS: Vitreoretinal examination with a binocular indirect ophthalmoscope and a Goldmann three mirror contact lens was performed on identical twin boys with Stickler syndrome. Each had retinal detachment in the left eye, and many aspects of their fundus findings were similar. The vitreous showed distinct abnormalities consistent with congenital vitreous anomaly of type 1 Stickler syndrome. The twins were followed up for 4 years after undergoing a successful operation to reattach their left retinas. RESULTS: Rhegmatogenous detachment with multiple tears occurred in the right eye of only one twin during the follow up period, despite the similar condition of their fundi. Although vitreous body was not present in most parts, slightly opaque vitreous cortex was attached to the retina near the ora serrata, and neither twin had posterior vitreous detachment during the follow up period. CONCLUSION: Multiple retinal tears appeared simultaneously in the right eye of one twin, indicating some tractional force had acted on the retina. It is believed that this force was caused by very thin vestigial vitreous cortex attached to the retina. Although these observations have been limited, vitreoretinal findings of the twins and their father were consistent and suggested presence of thin vitreous cortex attached to the retina without posterior vitreous detachment.     

Retinal detachment and infantile-onset glaucoma in Stickler syndrome associated with known and novel COL2A1 mutations

Background: Few reports on surgical outcomes after retinal detachment in Stickler syndrome exist. Also, infantile-onset glaucoma associated with Stickler syndrome has been rarely reported and no reports exist that examine outcomes after glaucoma surgery. This study describes the clinical and genetic associations and the long-term outcomes of retinal detachment repair or glaucoma surgery in patients with Stickler syndrome.

Materials and Methods: Retrospective, single-center, case series of patients with Stickler syndrome. Demographics, clinical features, genetic mutations, and long-term surgical outcomes of eyes that experienced retinal detachment or diagnosed with infantile-onset glaucoma were assessed.

Results: Fifteen patients were identified with a mean age of 13 years at presentation and followed for a mean of 6 years. Two-thirds were male. Genetic analysis was performed as part of routine examination in nine patients from eight families. All were identified as having variants in COL2A1, three of which were novel. Six eyes of six patients experienced retinal detachment. Fifty percent of eyes without prophylactic laser treatment experienced retinal detachment, whereas only 5% of eyes that underwent prophylactic therapy detached. Despite surgical intervention for retinal detachment, five eyes became phthisical. Five eyes of three patients were diagnosed with infantile-onset glaucoma. All five eyes required multiple glaucoma surgeries, and three eyes became phthisical.

Conclusions: This study illustrates the surgical challenges encountered in patients with Stickler syndrome. Additionally, infantile-onset glaucoma may be more prevalent than previously reported and presents a challenge in terms of management. A multidisciplinary approach is recommended to provide optimal care to these patients.     

Retinal detachment in Marfan syndrome

PURPOSE: To report postsurgical findings in patients with Marfan syndrome and retinal detachment (RD). METHODS: The authors identified and retrospectively reviewed the charts of one cohort of 12 patients (15 eyes) with Marfan syndrome and RD who were operated on at the Wilmer Institute and a second cohort of 16 such patients (24 eyes) who were operated several years earlier and elsewhere. RESULTS: First cohort--Final visual acuity (VA) was 20/80 or better and the retina was flat in all five phakic eyes (100%). The RD occurred after the eye had undergone lens removal in 10 eyes, 6 of which (60%) had a final VA of 20/80 or better, and 9 of which (90%) had a final VA of 5/200 or better (P = 0.20). Second cohort--The final VA was 20/80 or better and the retina was flat in 6 of the 7 phakic eyes (86%). Among 17 aphakic or pseudophakic eyes, only 5 (29%) had a flat retina and VA of 20/80 or better, whereas 12 (71%) had no light perception (P = 0.03). CONCLUSIONS: The results of RD operations done in the past in Marfan patients were worse when the eye was aphakic. In most cases operated more recently, the prognosis for successful RD repair was good regardless of whether the eye was phakic.     

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 Axenfeld-Rieger syndrome.

Three cases of the association between the Axenfeld-Rieger syndrome and retinal detachment in one family are described. Serious damage to the posterior segment of the eye in the Axenfeld-Rieger syndrome has not previously been reported.     

Retinal detachment in median cleft-face syndrome.

A 7-year-old boy had an unusual association of median cleft-face syndrome, a characteristic physiognomy, unilateral retinal dysplasia, and bilateral retinal detachment. Despite surgical treatment to both eyes he became blind. The hereditary pattern operating in this complex disorder was found to be consistent with an autosomal dominant trait.     

I型Stickler综合征家系临床和基因突变研究

背景Stickler综合征是一种遗传性结缔组织病,主要以眼部、关节、口面部及听力损伤为特征。确定Stickler综合征的基因突变位点能够为该综合征的基因诊断和治疗提供依据。目的研究一个I型Stickler综合征家系的临床特征并确定致病基因突变。方法对一个患I型Stickler综合征的家系进行临床研究和系谱分析。采集Stickler综合征家系中3例患者和6位表型正常者的外周血标本,采用PCR法扩增COL2A1基因的全部外显子及其侧翼,对扩增产物进行直接测序,结果与Genbank中相应序列进行比对。同时检测100位无亲缘关系的正常人外周血标本进行对照。结果该家系共4代11位成员,2位成员去世,其中包括1例患病者。现存的9位成员中共3例患者,调查显示该家系符合常染色显性遗传方式。3例患者的临床特点包括高度近视、膜型玻璃体异常及面中部扁平、短鼻、腭裂等,符合I型Stickler综合征的临床诊断。COL2A1基因突变筛查结果显示,该家系中3例患者COL2A1基因内含子12的第～个碱基发生了单个碱基缺失（IVSl2＋1Gde1）的杂合性剪接位点突变,核苷酸序列分析结果证实该突变致提前形成终止密码子,形成一种包括306个氨基酸在内的截短蛋白,导致该基因的功能异常,而家系中表型正常者及无亲缘关系的正常对照者均未发现该基因突变。结论本研究确定了一个I型Stickler家系,并在该家系确定了一个新的COL2A1基因突变,这是中国首次报道Stickler综合征家系的基因突变。     

Stickler syndrome

Stickler syndrome is a relatively rare condition (approximately 1 in 10,000), caused by a defective collagen gene and characterised by high myopia, high risk of retinal detachment and flattened facial features. An outline of the condition, its systemic and ocular manifestations and optometric management are described.     

AIDS／HIV感染合并视网膜脱离

目的探讨获得性免疫缺陷综合征（AIDS）／艾滋病病毒（HIV）感染合并视网膜脱离（RD）的临床特点、药物及手术治疗。方法回顾11例（16眼）AIDS／HIV感染患者RD的实验室检查和临床诊治资料,分析其病因、与细胞免疫的关系、RD发生的高危因素、治疗方法及治疗效果的影响因素。6例（6眼）做了玻璃体视网膜手术。结果13眼孔源性RD由病毒性视网膜炎及可疑病毒性视网膜炎引起,2眼RD由梅毒性葡萄膜炎引起,1眼为原发性孔源性视网膜脱离;发病时,6例CDfT淋巴细胞计数低于100个／μL,3例CD4T淋巴细胞计数高于200个／μL;未手术跟视力无改变,手术眼术后视力有不同程度提高,病程短及单纯性孔源性网脱眼术后矫正视力好于病程长及感染性视网膜炎导致的网脱眼。结论病毒性视网膜炎是CD4^＋T淋巴细胞计数较低的AIDS患者发生孔源性RD的主要病因,原发性孔源性RD及非病毒感染葡萄膜视网膜炎是CD4^＋T淋巴细胞计数较高的AIDS／HIV感染患者RD的主要病因。CD4^＋T淋巴细胞计数较低是RD的高危因素;玻璃体视网膜手术是视网膜解剖复位、改善视力的首选治疗方法。RD的病因、病程及病情严重程度是影响手术后视力的因素。     

Retinal detachment associated with morning glory syndrome

CASE REPORT: A twenty three year old woman was diagnosed of a morning glory papillary anomaly, then with normal visual acuity (VA). Nine years later, the VA decreased to 0.4, secondary to a serous macular detachment, confirmed by optical coherence tomography (OCT). After treatment with C2F6 gas injection, positioning, and peripapillary laser, the VA improved to 0.7 and the foveolar area reattached. DISCUSSION: The morning glory Syndrome usually has an early diagnosis due to poor visual acuity. Thirty eight percent of the cases have retinal detachment. We show an unusual case of morning glory syndrome with a serous detachment, successfully treated with gas and laser.     

Analysis of the vitreous membrane in a case of type 1 Stickler syndrome

Background  Stickler syndrome causes ocular abnormalities, including retinal detachment and vitreoretinal degeneration, and systemic anomalies such as arthritis and deafness. Although retinal detachment is characteristic of this syndrome, the pathogenesis is unknown. Case report  A 10-year-old boy reported decreased vision and presented 5 days after visual loss. Results  Ophthalmoscopy showed a retinal detachment with a giant tear in the right eye, and a nonpigmented epithelial detachment with pars plicata breaks in the left eye. Bilateral findings included an empty vitreous and a vitreous membrane at the equator. The systemic abnormalities included short stature and joint hypermobility. The diagnosis was type 1 Stickler syndrome, and the eyes were treated surgically. Immunohistochemistry showed that the vitreous membrane resected intraoperatively was comprised primarily of Müller cells. Electron microscopy showed dense collagen fibers around the cells in the membrane that were identical to the vitreous collagen inserted into the basement membrane of the cells, which was similar to the ultrastructure of the vitreous base. Conclusion  Müller cells might be primary components of the vitreous membrane in type 1 Stickler syndrome. The vitreoretinal interface, which resembled the ectopic vitreous base, in the vitreous membrane may be related to the pathogenesis of the retinal detachment.     

Retinal break type and proliferative vitreoretinopathy in nontraumatic retinal detachment

In a retrospective study of 1180 consecutive eyes operated for retinal detachment, vitreous traction on the rent was the determining factor for the development of proliferative vitreoretinopathy (PVR). Round, multiple, small holes in equatorial degeneration (retinogenic) and macular holes in which no vitreous traction on the rent was found did not complicate with PVR. Retinal detachment caused by horseshoe or crescent-shaped tears with evidence of vitreous traction (vitreogenic) developed PVR to a variable degree: in 171 (25.8%) senile myopic, 19 (44.2%) senile-myopic aphakic, 23 (20.2%) typical aphakic, and 32 (78.1%) patients with giant tears. We also found that retinogenic retinal detachments affected younger age groups more than did vitreogenic retinal detachments.