视网膜色素变性97例的眼电图研究(英文)

目的 研究视网膜色素变性的超微结构及病理性改变与眼电图之间的关系 方法 采用视觉电生理技术,对97例视网膜色素变性患者进行眼电图(EOG)检测,观察光峰电位等十项指标、并与47名健康者进行比较 结果 视网膜色素变性患者的色素上皮层功能明显损害,97例视网膜色素变性患者的眼电图检测表现为三种类型:①光波明显降低(低波型)54例,占55.67％;②光峰暗谷消失(无波型)14例,占14.43％;③暗谷光峰倒转(倒置型)29例,占29.90％。低波型者提示色素上皮功能轻度损害;无波型者提示色素上皮严重受损,倒置波提示锥体细胞受损较杆细胞为重,明适应阶段锥体细胞反应低下。结论 眼电图的检测有助于视网膜色素变性患者的诊断及判断病程进展情况     

视网膜色素变性97例的眼电图研究

目的：研究视网膜色素变性的超微结构及病理性改变与眼电图之间的关系。方法：采用视觉电生理技术，对97例视网膜色素变性患进行眼电图（EOG）检测，观察光峰电位等十项指标，并与47名健康进行比较，结果：视网膜色素变性患的色素上皮层功能明显损害，97例视网膜色素变性患的眼电图检测表现为三种类型：（1）光波明显降低（低波型）54例，占55．67％；（2）光峰暗谷消失（无波型）14例，占14．43％；（3）暗谷光峰倒转（倒置型）29例，占29．90％，低波型提示色素上皮功能轻度损害，无波型提示色素上皮严重受损，倒置波提示锥体细胞受损较杆细胞为重，明适应阶段锥体细胞反应低下，结论：眼电图的检测有助于视网膜色素变性患的诊断及判断病程进展情况。     

助视器在视网膜色素变性患者中的应用

本文分析了我院低视力门诊确诊的５１例视网膜色素变性患者，其中属盲和低视力范围４６例，占９０。２０％，全部患者中有３６例戴远用２．５Ｘ助视器后至少一眼的最佳矫正视力≥０．３，脱残率达７０．５９％，另外１５只眼矫正视力均有不同程度提高，全部５１例患者均选择了远用助视器，但是视网膜色素变性患者视野小，使用近用助器后所看以的范围更小梁切除术后因此该类患者选择近用助视器的比例较低，我们建议试用闭路电视助视器     

视网膜色素变性的治疗进展

视网膜色素变性（RP）是一种以视杆细胞和视锥细胞营养不良为特征的遗传性致盲性眼病。临床特点为夜盲,视野缩小,视网膜上出现骨细胞样色素沉着。发病率较高,预后差。RP是单基因遗传病,病因主要与基因变突、视网膜色素上皮吞噬功能及免疫功能异常有关。到目前为止RP缺乏有效的治疗手段,仍被WHO划归为不可治疗盲,治疗仅限于延缓变性过程,但国内外就该病的基因治疗、视网膜移植、人工恢复视觉、神经保护、抗凋亡治疗、药物治疗、营养治疗等方面已取得了一定的进展,本文现综述如下。     

石斛散对人视网膜神经细胞钙离子变化的影响

目的通过观察石斛散对人视网膜神经细胞内钙离子持续升高导致的细胞凋亡的保护作用,探讨其在治疗视网膜变性类疾病方面的作用及机制,为临床治疗同类疾病提供药理学依据。设计实验性研究。研究对象体外培养的人眼视网膜神经细胞。方法利用体外培养的贴壁、伸展以及生长良好人视网膜神经细胞,用Fluo3／AM标记,通过激光共焦扫描显微镜动态观察和记录石斛散和维拉帕米对细胞内钙离子水平以及谷氨酸引起的钙超载的影响。主要指标细胞内钙离子水平(荧光强度)。结果加入谷氨酸后,荧光强度较原基础值增加88％;而石斛散可使荧光强度降低14．8％;维拉帕米降低幅度为57．3％。对先用谷氨酸干预的细胞,石斛散不能降低胞内钙离子水平,但预先用石斛散干预的细胞,谷氨酸升高胞内钙离子30％,与未干预组比较有统计学差异(P=O．000)。结论石斛散具有降低体外培养人视网膜神经细胞内钙离子的作用,同时可以抵抗谷氨酸损伤细胞后引起的胞内钙离子升高,提示其具有抵抗钙超载,抑制视网膜细胞凋亡的作用。     

视网膜色素变性的ERGs观察

目的：为研究视网膜色素变性的视网膜电图（ＥＲＧｓ）,测定了７５例１５０眼视网膜色素变性病人的ＥＲＧｓ,分析了其ｂ波振幅情况。方法：用视觉电生理仪测量ＥＲＧｓ的ｂ波振幅。分析从５个月到７０岁的７５例１５０多膜色素变性病人的ＥＲＧｓ的ｂ波振幅情况。结果：（１）ｂ波振重度降低或记录不到波形者１３０眼,占８７％,平均年龄２５岁,其最好视力达１．５,最低右无光感。（２）ｂ波振幅轻度或中度降低者１０例２０眼,     

散发性视网膜色素变性的流行病学及临床表型特征调查

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单基因遗传性致盲性眼病,发病机制及临床特征复杂,目前对其临床表型特征及流行病学调查的研究较少,尤其是散发性RP患者.目的 了解散发性RP的流行病学及临床表型特征,为临床诊疗提供可靠的依据.方法 采用前瞻性队列研究设计.纳入2010年7月1日至2011年11月10日在第三军医大学西南眼科医院确诊为散发性RP的患者130例,对其进行问卷调查和临床检查,包括检眼镜下眼底检查、验光检查、最佳矫正视力(BCVA)、视野、视网膜电图(ERG)和彩色眼底照相检查,对各种类型的RP临床特征进行分型. 结果 共收集散发性RP患者130例,其中男66例,女64例；平均年龄(36.9±14.4)岁,平均发病年龄(21.2±18.4)岁；有家族近亲结婚史者7例,占5.38％；合并全身疾病者13例,占10.00％；RP病例中从事户外工作者44例,占33.85％；从事户内工作者86例,占66.15％；眼底分型中最常见的是典型型RP 89例,占68.5％,其次是中心性RP 16例,占12.3％,无色素性RP 16例,占12.3％；全视野ERG检查五项反应均记录不到波形99例,占76.15％.发现典型型RP患者夜盲史最长,中心性RP患者BCVA最差.结论 本研究结果发现散发性RP发病年龄以≤10岁组最高,其主要临床表型变异大、分型多、诊断特异性差,但全视野ERG结果有一定的规律可循.     

脉络膜血管重建治疗视网膜色素变性

通过促进脉络膜血管重建 ,改善或维持RP患者视功能。并从临床和组织病理学二方面对其效果进行评估。方法 :对RP患者 5 7眼采用脱细胞羊膜和淋巴细胞生长因子行脉络膜上腔植入 (简称脉络膜血管重建术 )。术后一月、半年、一年对其视力、视野进行分析。同时在 8只兔 2只狗行脉络膜血管重建 ,术后一月、半年、一年对其组织病理学改变进行分析。结果 :具备齐同条件 42眼进行方差分析 ,术后一个月与术前比较差异无显著性。术后一年与术前及术后一月比较 ,P <0 0 5差异有显著性。将术后一年以上的视野改变由等级资料转化为计量资料 ,P <0 0 0 1差异有显著性。实验组术后一个月 ,植入物周边血管长入 ,局部脉络膜增厚 ,血管稍见丰富或较扩张 ,术后一年血管增多 ,管腔内可见红血细胞。结论 :脉络膜血管重建术是一种安全可行、目前治疗RP有效方法之一。早期患者可以得到视力提高和视野的改善。     

眼肌深层巩膜移植治疗原发性视网膜色素变性

目的：探讨手术治疗原发性视网膜色素变性的疗效及预后，方法：采用眼肌巩膜深层移植治疗该病136例（272眼），结果：术后2周馀出院时视力改善中，早期10只眼，有效率为100％，中期109只眼，有效率为91．74％，晚期153只眼，有效率为90．2％，有16例患术后3个月－1年复诊，视力疗效稳固，视觉电生理各参数指标有不同程度的改善，与临床疗效相平行。结论：手术治疗原发性视网膜色素变性，可得到较好的临床 效，并经视觉电生理检测各参数指标变化而证实。     

复方樟柳碱治疗视网膜色素变性的临床观察

目的观察复方樟柳碱治疗视网膜色素变性的疗效。方法用复方樟柳碱于双侧颞浅动脉旁皮下注射治疗视网膜色素变性患者20例40眼,观察治疗前后视力、定量视野、视敏度及视网膜电流图等指标变化。结果本组20例40眼中,显效13眼,有效24眼,无效3眼,总有效率为92.5.各项观察指标治疗前后比较差异有统计学意义(P<0.01)。结论复方樟柳碱颞浅动脉旁皮下注射治疗视网膜色素变性,可有效地改善视细胞的功能及代谢,促进视网膜内层循环,提高视敏度,保护中心视力。     

Deferoxamine (Desferal)-induced toxic retinal pigmentary degeneration and presumed optic neuropathy

Eight patients (16 eyes) developed ocular toxicity while undergoing intravenous deferoxamine mesylate (Desferal) chelation therapy for transfusional hemosiderosis. Presenting symptoms included decreased visual acuity, color vision abnormalities, and night blindness. Six patients presented as presumed retrobulbar optic neuropathy demonstrating central scotomas and color vision abnormalities. The remaining two patients presented with pigmentary changes confined either to the macula or equator. Following cessation of therapy, vision improved in all but four eyes, which did not attain their pretreatment visual acuity. Optic neuropathy resolved in all cases. However, follow-up revealed development of retinal pigmentary degeneration in seven patients, involving the macula in six and the equatorial retina in one. Fluorescein angiography and electrophysiological tests suggested toxicity at the level of retinal pigment epithelium and photoreceptors.     

Negative electroretinograms in pericentral pigmentary retinal degeneration

The clinical presentation and electrophysiological findings are described of three consecutive cases with pericentral pigmentary retinal degeneration. The responses to bright flashes after dark adaptation showed negative waveform shape in all cases. Rod responses were strongly reduced compared with cone responses. Cone electroretinograms elicited by long-duration stimuli showed greater loss of the on-response than the off-response. The ratio of the on-response amplitude to off-response amplitude of these patients (0.52 +/- 0.12; mean +/- SD, n = 6) was significantly smaller than that of normal subject (0.83 +/- 0.21; mean +/- SD, n = 8) (Mann-Whitney U-test, P < 0.01). The electrophysiological findings of these cases suggest a greater defect of inner retinal function, especially in transmission between photoreceptors and depolarizing bipolar cells.     

Cyclosporin A treatment in two cases of corneal peripheral melting syndrome

In 24 patients suffering from pigmentary retinal degeneration the electro-retinograms to pattern stimulation (PERG) were recorded with a silver-cup electrode placed on the center of the lower eyelid skin referred to an electrode on the earlobe. The results were compared with the responses to flash stimulation (FERG) and pattern visual evoked cortical potentials. None of patients showed normal FERGs. Nineteen of 48 eyes showed subnormal FERGs. The PERG was recorded from those 19 eyes. In the remaining 29 eyes with flat FERG, 8 eyes showed clear PERGs. The peak latency of the first positive component of PERGs was found to be prolonged in these patients. PERGs seemed to be recordable in the patients whose visual acuity and central visual field were relatively well preserved.     

Ophthalmic manifestations and histopathology of xeroderma pigmentosum: two clinicopathological cases and a review of the literature

Xeroderma pigmentosum is a rare, autosomal recessive disease caused by a defect in DNA repair. Patients with xeroderma pigmentosum often have cutaneous and ocular sun sensitivity, freckle-like skin pigmentation, multiple skin and eye cancers, and, in some patients, progressive neurodegeneration. Xeroderma pigmentosum predominantly affects the ultraviolet (UV) exposed ocular surface, resulting in eyelid atrophy and cancers, corneal dryness, exposure keratopathy, and conjunctival tumors. We report the clinical history and ocular pathology of two white women who had xeroderma pigmentosum with neurological degeneration: Case 1 (died at age 44 years) and Case 2 (died at age 45 years). Case 1, with mutations in the XPA gene, had more than 180 basal cell carcinomas of her skin and eyelids and died from complications of neurodegeneration. Case 2, with mutations in the XPD gene, was sun-protected and had three skin cancers. She died from complications of neurodegeneration and pneumonia. Both patients had bilateral pinguecula, corneal pannus, and exposure keratopathy. Case 1 had bilateral optic atrophy, and Case 2 had bilateral peripheral retinal pigmentary degeneration. Both patients developed retinal gliosis. The ophthalmic manifestations and pathology of xeroderma pigmentosum are discussed and reviewed with respect to this report and other cases in the literature. These cases illustrate the role of DNA repair in protection of the eyes from UV damage and neurodegeneration of the retina.     

原发性视网膜色素变性的血液流变学改变及临床意义

本文对44例视网膜色素变性患者进行了血液流变学检查,与40例健康人进行对照。发现全血粘度与红细胞聚集指数明显高于正常人。作者认为,这种变化可导致全身、局部血液循环障碍,导致组织器官的缺血、乏氧,乃致引起一系列的病理改变,更加重了视网膜功能损害,从而作者提出了用降低血液粘度,降低胆固醇、血脂和增强血液流变性的一些药物来对视网膜色素变性患者进行治疗。     

Dominant Retinitis Pigmentosa: A Clinicopathologic Correlation

Autopsy and clinical studies were performed in a family with dominantly inherited retinitis pigmentosa. The eyes of two senior members of the family were obtained for histopathologic study, while three other family members were studied clinically. All family members studied had visual field loss, nyctalopia, and a spectrum of pigmentary disruption. There was variable expressivity of pigmentary migration, foveal atrophic changes, surface wrinkling retinopathy, choriocapillaris atrophy, drusen, vitreous synchysis, and optic pallor. Three specific zones of retinal and retinal pigment epithelial changes were identified histopathologically. A clinicopathologic correlation is presented.     

视网膜脱离复位术后对侧眼视网膜变性的激光治疗疗效观察

目的:探讨1眼视网膜脱离复位术后,对侧眼有周边视网膜变性或伴有干性裂孔的患者进行预防性视网膜激光光凝术的疗效观察。方法:对符合上述条件的患者,常规行散瞳三面镜或间接眼底镜检查,对明确有对侧眼周边视网膜变性(格子样变性、霜样变性、囊样变性等)或伴有干性裂孔的192例行预防性视网膜激光光凝术。结果:接受预防性视网膜激光光凝术的192例患者对侧眼的眼底周边视网膜变性区或干性裂孔区封闭良好,色素斑形成明显。光凝术后随访6～18mo,所有患者均无发生孔源性视网膜脱离。结论:对眼底有周边视网膜变性或伴有干性裂孔的患者行预防性视网膜激光光凝术能有效防止视网膜脱离的发生。     

有晶状体眼人工晶状体植入术前眼底检查结果分析

目的：研究有晶状体眼人工晶状体植入手术前患者术眼三面镜检查的结果,分析其眼底的病理改变,探讨术前眼底检查对早期诊断和处理视网膜病变的临床意义。
　　方法：回顾我院2011-04/2012-04行有晶状体眼人工晶状体植入术患者64例127眼,术前的三面镜下眼底检查结果,对患者年龄、屈光度数、三面镜检查的发现及视网膜光凝的情况进行分析及归纳。
　　结果：患者64例127眼中共34眼(26.8%)发现周边部视网膜病变,其中视网膜裂孔8眼(6.3%),视网膜格子样变性区15眼(11.8%),视网膜霜样变性区5眼(3.9%),视网铺路石样变性区3眼(2.4%),玻璃体视网膜粘连牵引2眼(1.6%),视网膜出血1眼(0.8%)。共25眼术前接受了视网膜光凝。3 mo后接受ICL植入手术,术后随访1a无视网膜脱离发生。
　　结论：有晶状体眼人工晶状体植入术前进行三面镜下眼底检查有助于发现患者周边部视网膜的病变及异常,并于术前做出适当的处理,有助于提高手术的安全性,能够指导术后对患者眼底情况的随访。     

萎缩性裂孔与视网膜脱离

对患萎缩性裂孔源性视网膜脱离的577例(595眼)进行了临床观察。其特征为:(1)67.59%的病例发生在年青人,70.25%为近视或高度近视。(2)裂孔小,数目多,且绝大多数分布在颞侧视网膜。(3)74.62%以上与视网膜退行性变性有关,2/3以上的病人有玻璃体液化和色素游离。     

Autosomal Dominant Kearns-Sayre Syndrome

External ophthalmoplegia, retinal pigmentary degeneration, and heart block constitute the Kearns-Sayre syndrome. Skeletal muscle weakness, deafness, ataxia and endocrine disturbances also may occur. We examined 15 members in two generations of a family with autosomal dominant Kearns-Sayre syndrome. Seven had external ophthalmoplegia, six had electrocardiographic abnormalities, six had limb weakness and six patients were normal. A deltoid muscle biopsy specimen from one patient contained typical “ragged-red fibers”, abnormal lipid accumulation, and mitochondria increased in size and number, containing inclusions. The study demonstrated: (1) the marked variability in genetic expression; (2) the need to examine family members to discover asymptomatic patients and to establish an otherwise unrecognized hereditary pattern; and (3) the absence of specific and consistent biochemical abnormalities.