Retinal arteriovenous communication in retinitis pigmentosa with Refsum's disease-like findings

In this report we describe, herewith, a patient with primary pigmentary dystrophy of the retina (retinitis pigmentosa) associated with unilateral retinal arteriovenous communication and exudative retinal detachment. The patient had complete resolution of the retinal detachment following laser photocoagulation treatment. Such association has not been previously reported.     

Cyclic exotropia associated with retinitis pigmentosa

Purpose To report the occurrence of cyclic exotropia in a patient with retinitis pigmentosa. Methods A 31-year-old man presented with cyclic exotropia of the left eye of 4 years duration that alternated every 24 h. A detailed ophthalmologic examination was performed. Results The patient showed an orthotropia and a comitant left exotropia of 30 prism diopters at distance and 25 prism diopters at near in the primary position on an exotropic day with a cycle of 48 h. A fundoscopic examination showed bone spicule formation and arteriolar narrowing, and electroretinography showed no response in either eye. A Goldmann visual field examination showed a central island in both eyes. Conclusions Cyclic exotropia may occur in patients with retinitis pigmentosa, an association that to the best of our knowledge has not been previously reported in the English ophthalmic literature. Cyclic exotropia is an unusual association with retinitis pigmentosa.     

针刺治疗视网膜色素变性的组穴规律分析

目的:基于数据挖掘技术分析文献中针刺治疗视网膜色素变性穴位的组方规律。方法:检索国家知识基础设施数据库（CNKI）、中国学术期刊数据库（CSPD）、中文科技期刊数据库（CCD）文献中治疗视网膜色素变性所使用的穴位处方,使用中医传承计算平台（V3.1）进行数据挖掘,分析针刺治疗视网膜色素变性的取经、选穴和配伍规律。结果:共纳入文献47篇,应用频次前5位的腧穴为球后、睛明、太阳、足三里、合谷;奇穴选用频次最高,经脉选用频次前3位依次为足太阳膀胱经、足少阳胆经、足阳明胃经;取穴部位以头颈部选取最多;其次为下肢部和上肢部。结论:针刺治疗视网膜色素变性的核心经脉为足太阳膀胱经、足少阳胆经及足阳明胃经,核心组穴为球后、睛明及太阳,配以足三里、合谷、光明、三阴交等穴,其取穴规律以局部取穴以及邻近取穴直达病所为主,远端取穴以足三里、合谷等辅以调理脏腑经络。     

视网膜色素变性的黄斑局部视网膜电图频谱分析

目的 通过对黄斑局部视网膜电图（ＬＥＲＧ）的Ｆｏｕｒｉｅｒ分析,进一步了解视网膜色素变性（ＲＰ）患者黄斑部光感受器细胞与光感受器后神经元细胞功能异常的情况。方法 ４９例ＲＰ患者的ＩＥＲＧ被记录研究。应用手提眼底镜式局部刺激器通过放大的瞳孔直视眼底监控固视状况,闪烁光频率３１Ｈｚ。结果 与对照组相比,ＬＥＲ的基波（ｆｕｎｄａｍｅｎｔａｌ ｈａｒｍｏｎｉｃ,ｉｆ）与二次谐波（ｓｅｃｏｎｄ ｈａｍｏｎｉ     

Liposomally-entrapped ganciclovir for the treatment of cytomegalovirus retinitis in AIDS patients

Treatment of retinitis by cytomegalovirus (CMV) in AIDS patients requires frequent repetitive injections of intravitreal ganciclovir (GCV). This study was undertaken to establish experimentally whether the intravitreal application of liposomally-entrapped GCV could prolong intraocular therapeutic levels when compared with the intravitreal injection of free GCV, and the clinical effectiveness of this approach in AIDS patients. Intraocular concentration of GCV was determined by means of an ELISA test in rabbit vitreous 2, 3, 7, and 14 days after a single intravitreal injection of either different doses of the free drug (0.2–20 mg) or 1 mg of liposomally-entrapped GCV. After 72 h, only the vitreous of rabbits injected with doses of free GCV greater than or equal to 5 mg showed therapeutic levels of the drug; no GCV was detected after 72 h with any of the doses applied. Moreover, the microscopic study revealed GCV-induced damage in retinal structures in the animals injected with a free GCV dose greater than or equal to 15 mg. Intravitreal injection to rabbits of 1 mg of liposomally-encapsulated GCV showed no retinal toxicity at any of the time points studied, and therapeutic levels were detected up to 14 days after injection (4.67 ± 0.39 g/ml). Five AIDS patients suffering CMV retinitis were injected with 0.5 mg of liposomally-entrapped GCV (2 mg of lecithin). Complete remission of the CMV retinitis was observed already at the third injection of 0.5 mg GCV (one per week) and relapse did not occur during the 2–4 month follow-up of the patients. In view of the results presented, it can be concluded that intravitreal injection of liposomally-encapsulated GCV increases the time period required for reinjections in the treatemnt of CMV retinitis.Abbreviations AIDS acquired immunodeficiency syndrome - AZT zidovudine - CMV cytomegalovirus - GCV ganciclovir     

视网膜色素变性家系应用助视器的效果随访分析

目的探讨助视器在视网膜色素变性(RP)患者中的应用价值。方法分析一例RP家系的患病家谱、患者的生活视力以及验配助视器后的效果。结果该家系4代人中患病12例,其中3人日常生活视力均≤0.12,应用2.8×2.8倍眼镜式远用助视器后,其康复视力分别达到了0.4、0.4、0.6,摆脱了低视力困扰。结论助视器可提高RP患者的生活视力和生活质量,其临床价值应得到重视。     

Focal Choroidal Excavation in Retinal Dystrophies

Aim: To investigate the presence of focal choroidal excavation (FCE) in patients with retinitis pigmentosa (RP), Stargardt’s disease (STGD), and Best disease in the Indian population. Methods: This retrospective consecutive case series included 309 eyes of 157 patients with RP (183 eyes), STGD (93 eyes), and Best disease (33 eyes) with good-quality, enhanced-depth spectral domain optical coherence tomography scans. Comprehensive ophthalmic examination data were collected. Characteristics of FCE, including location of FCE, type (conforming and non-conforming), maximal width, and depth, were noted. Results: FCE was found in 2 out of 33 (6%) eyes with Best disease and no FCE was found in eyes with RP or STGD. The location of the FCE was extrafoveal in both cases. The first case had non-conforming FCE while the second case had the conforming type and the FCE occurred in association with choroidal neovascularization in the second case. The first case maintained good visual acuity of 20/20 over the entire period of follow-up (14 months), while the second case had a visual acuity of 20/200 at the last follow-up (three years) due to scarred choroidal neovascular membranes. The FCE showed no change in both eyes over the entire duration of follow-up. Conclusion: Focal choroidal excavation was found in 6% of eyes with Best disease, which remained stable throughout follow up. Eyes with RP and STGD did not have any FCE. Further studies are required to determine the role of vitelliform material in FCE development in Best disease.     

眼病候选基因芯片在一汉族视网膜色素变性家系分子遗传学中的应用

背景 视网膜色素变性(RP)是一种累及视网膜光感受器细胞及色素上皮细胞的遗传性致盲眼病.RP的发病机制及临床特征较复杂,具有遗传异质性和临床异质性.随着基因组学的迅猛发展,越来越多的研究手段应用于RP致病基因筛查.目的 通过眼科基因芯片测序方法探讨一常染色体遗传RP家系临床表型及其基因突变情况.方法 于2013年6月在重庆市荣昌县收集一汉族RP家系,对该家系所有患者进行眼科检查确诊后,抽取12名家系成员外周静脉血各1 ml,应用华大基因眼科芯片目标区域捕获技术进行基因突变检测.该基因芯片覆盖了眼病相关的基因编码区(包括59个RP候选基因),选择家系内2例RP患者(Ⅱ5、Ⅱ7)的DNA样本进行目标区域捕获测序.通过生物信息学技术对测序结果进行分析,对共有的变异位点进行Sanger测序验证.结果 该家系为常染色体遗传的RP家系.通过基因芯片分析发现该家系Ⅱ5和Ⅱ7患者存在2个共有基因突变:USH2A (c.3065T＞C,p.Phe1022Ser)突变和PDE6A(c.1699G＞A,p.Ala1319Gly)突变,家系其他成员检测结果表明2个基因突变未与疾病共分离.该眼科基因芯片高通量测序技术虽然未定位该家系致病基因,但快速排除了RP常见候选基因,为进一步分析奠定了研究基础.结论 采用基于目标区域捕获测序的眼科基因芯片技术可以快速、准确地筛查RP常见候选基因,是眼科疾病遗传研究的一项适用且高效的新方法.