视网膜色素变性28例临床分析

1988～1998年我们共收治视网膜色素变性患者28例，采用中西医结合治疗效果显著，现分析总结报告如下。     

原发性视网膜色素变性合并血管闭塞的临床特点分析

目的探讨原发性视网膜色素变性(RP)合并视网膜血管闭塞患者的临床特点及预后。方法回顾性分析18例(36只眼)原发性RP合并视网膜血管闭塞患者的临床资料,包括眼底检查、荧光素眼底血管造影、吲哚氰绿血管造影、视网膜电图及视诱发电位等检查结果。对3例患者进行基因筛选。结果原发性RP合并视网膜血管闭塞患者的临床表现有视乳头萎缩、视网膜血管变细、广泛视网膜色素上皮萎缩。视网膜电图检查显示a、b波为无波型或近无波型。患者多有夜盲史。既符合原发性RP的临床表现,又具有血管闭塞的自身特征,如晚期血管可完全或近完全闭塞、视神经明显萎缩、脉络膜血管受累,最终致盲速度较原发性RP快,且无有效疗法。3例患者经基因筛查,在RHO及RLBPI两基因编码区中,未发现基因突变。结论原发性RP合并视网膜血管闭塞可能属于毯层视网膜变性范畴,血管进行性闭塞可能是其合并的临床表现。     

儿童无色素性视网膜色素变性漏诊3例

原发性视网膜色素变性是一组进行性遗传营养不良性退行病变。典型病例的主要临床特点为进行性视野缺损、夜盲、色素性视网膜病变和视网膜电流图异常。无色素性视网膜色素变性临床少见,据统计占视网膜色素变性总数的10%,国内见零星报道,由于眼底看不到色素沉着,故容易误诊和漏诊。现将作者所见3例漏诊的儿童病例报道如下。     

原发性视网膜色素变性临床分级方法初探

目的 探讨原发性视网膜色素变性的临床分级方法,以据此判断该病病情的临床严重性.方法 将患者按自觉症状分成Ⅰ、Ⅱ、Ⅲ、Ⅳ4个等级,选择各个等级资料(眼底照相、视网膜电流图、视野)齐全的患者159人,分析他们在年龄、视力、色觉异常、视网膜色素沉着、视网膜血管变细和视盘颜色变淡6个因素上的差异,找出与患者自觉症状最相关的指标,以此作为衡量病变严重程度的指标.结果 视网膜色素沉着、视网膜血管变细和视盘颜色变淡三者的出现与患者白天活动障碍的出现比较同步,而三者中又以视网膜色素沉着最具客观性和直观性.结论 在原发性视网膜色素变性患者,一旦出现眼底色素沉着,从病理上和临床上都说明视网膜中视杆细胞和视锥细胞的结构和功能已发生严重破坏,病情不可逆转.建议将眼底色素沉着作为衡量原发性视网膜色素变性病情严重性的主要指标.     

视网膜色素变性的中西医结合治疗

本文报告了采用中药“网变煎剂”辅以西药综合治疗视网膜色素变性45例,显效14例,占31.11％;进步18例,占40％;好转6例,占13.33％。总有效率达84.44％。经临床观察1～5年,视力均有不同程度进步,视野有所增宽,其作用机理是:“网变煎剂”具有滋肾壮阳,养血益气,活血通络之功能,可以治其本,西药给予免疫制剂,维生素类,血管扩张剂等,可以改变细胞免疫功能,补充微量元素,改善轴浆流的阻滞现象,进而达到治疗作用。认为,在西医治疗本病尚无特殊疗效的情况下,采用中西治疗的治疗方法,不失为一种有效的探索。     

视网膜色素变性的遗传学及治疗学研究进展

视网膜色素变性(retinitis pigmentosa,RP)是一组常见的、具有高度遗传异质性的可致盲性眼病,近年来随着分子遗传学及生物化学的介入,RP的遗传学研究取得了很大进展,为其治疗提供了新的方向,本文就其遗传学及治疗学研究现状进行综述。     

家族性视网膜色素变性临床遗传学研究

对一家系６代视网膜色素变性患者及家族成员８０余人进行调查，结果表明患病人数２４例，患病率３０％。其中男性患者１５例，女性患者９例。而在本家族血统者６２人中，患病率３９％。家系中连续６代均有患者，男女发病机率均等，遗传学分析确定为常染色体显性遗传病。文中列举讨论了一些典型病例和特异现象，如并发恶性青光眼、先天性白内障、先天性视网膜血管异常等，值得进一步研究和探讨。     

视网膜色素变性的治疗进展

视网膜色素变性(retinitis pigmentosa,RP)是一类以进行性感光细胞和色素上皮细胞功能障碍为特征的遗传性疾病,是世界范围内常见的致盲性眼病。其发病机制和确切病因尚不明了,至今缺乏有效治疗办法。我们回顾近年来国内外特别是国外相关文献,对视网膜色素变性的治疗方法的研究进展作一综述。     

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。     

视网膜色素变性视紫红质基因突变检测分析

目的 研究视网膜色素变性患者视紫红质基因突变及其与临床表现的关系.方法 应用聚合酶链反应和直接测序技术,对33例视网膜色素变性先证者进行了视紫红质基因整个编码区及内含子外显子拼接区的突变筛选,其中常染色体显性遗传5例、常染色体隐性遗传8例,散发患者20例;同时应用裂隙灯、眼底镜、动静态视野计和视网膜电流图对患者进行临床检测.随机收集50例正常人进行对照检测.结果 发现1例散发患者有视紫红质基因P347L突变,呈杂合子,密码子347由CCG变成CTG.该患者13岁出现夜盲,46岁时视力和视野损害较重,视网膜电图检查杆体和锥体无反应.眼底显示视盘萎缩,血管变性,视网膜可见大量骨细胞样色素沉着.结论 视紫红质基因P347L基因突变患者有较为严重的临床改变;而且P347L突变被认为是该患者的病因.     

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.     

Genetic features of retinitis pigmentosa in Turkey

Sixty-two cases with retinitis pigmentosa from 42 index families were investigated to reveal the genetic features of the disease in Turkey. There were 42 propositi of whom 5 had a systemic syndrome associated with retinitis pigmentosa. Of the remaining 37 cases the condition was autosomal recessive in 21 (56.8%), sporadic in 12 (32.4%), autosomal dominant in 3 (8.1%) and X-linked recessive in one (2.7%). Sporadic cases may be more frequent as many hereditary cases are not brought to medical attention in rural families. Male preponderance among sporadic cases may indicate that there may be more X-linked cases. Nine out of 21 cases initially classified as sporadic displayed parental consanguinity and they were included as having autosomal recessive trait. Large families with autosomal recessive inheritance may prove valuable in linkage analysis and in defining future gene abnormalities.     

视网膜色素变性患者视觉电生理观察

目的 探讨视网膜色素变性（ＲＰ）患者的视觉电生理改变。方法 对１１０例２２０只眼视网膜色素变性患者进行Ｐ－ＶＥＰ、Ｆ－ＥＲＧ检查。结果 ＲＰ患者Ｐ１００波潜时与对照组相比明显延长,振幅则明显降低。ｂ波的振幅与病程长短、视力的降低程度、年龄大小有关,统计学处理有非常显著性差异。结论 随着病程延长、年龄的增加、视力的降低,ｂ波呈熄灭型的患者增加,表现视网膜损害程度加重。     

Unilateral retinitis pigmentosa with amblyopia in the fellow eye

Purpose The purpose was to report a case of unilateral retinitis pigmentosa with amblyopia in the other eye.Methods Eight years ago, a 36-year-old woman complained of peripheral visual field loss in her left eye when she covered her right eye. Complete ophthalmological examinations including fundus photography and fluorescein angiography, full-field electroretinography, dark adaptation, and microperimetry were performed.Results Best-corrected visual acuity of the patient was 0.2 with +2.5 diopters in her right eye and 0.3 with +1.5 diopters in her left eye. Fundus examination did not reveal any abnormalities in the right eye, but narrow retinal vessels, optic disc pallor, and peripheral retinal pigment clumping was found in the left eye. The full-field electroretinography was normal in the right eye, but rod response, cone response, and combined response were non-recordable, and 30-Hz response was very small in the left eye. Dark adaptation thresholds were normal in the right eye, but were dramatically elevated in the left eye. Microperimetry was normal in the right eye, but the visual field was reduced to a 2×5° central field in the left eye.Conclusion Unilateral retinitis pigmentosa with amblyopia in the other eye is a rare condition. The patient presented here had a case of unilateral retinitis pigmentosa with the other eye with ametropic amblyopia. It is necessary to perform functional and morphological ophthalmological examinations to confirm the diagnosis.     

視網膜色素變性(RP)患者的F-ERG特徵分析

目的對RP患者F-ERG進行檢查,以分析病程和作爲眼肌深層鞏膜移植術術後療效跟踪的客觀對照指標.方法采用常規無創傷視覺電生理描記術,測定暗視F-ERG.結果受檢的210名RP患者的420祗眼中,F-ERG爲"熄滅型"的爲67.9%,能記録到ERP的占19.8%,a-波爲28.3%,c-波僅爲4.0%,能記錄到b-波舆負後電位的分别爲10.7%和7.4%.說明RP患者視網膜對閃光刺激反應的機能已經顯著受損.結論 RP患者的F-ERG有不同程度的特有改變,在眼肌深層鞏膜移植術進行治療後,再復查F-ERG時,則觀察到某些波重現,或原有波的波幅增加和峰潜伏期縮短.     

Bilateral spontaneous anterior lens dislocation in a retinitis pigmentosa patient

PURPOSE: To report a case of bilateral spontaneous anterior lens dislocation associated with retinitis pigmentosa (RP). METHODS: A 45-year-old male with RP presented with elevated intraocular pressure (IOP) in the right eye and was treated with laser iridotomy (LI). After LI, complete crystalline lens dislocation into the anterior chamber occurred. Surgical intervention, including anterior vitrectomy, intracapsular cataract extraction (ICCE), and IOL scleral fixation was performed. Two years later, the same episode occurred in his left eye and a similar treatment was done. RESULTS: Surgery was successful in both eyes. CONCLUSIONS: This is the first report of bilateral spontaneous anterior lens dislocation in a RP patient.     

散发性视网膜色素变性视紫红质基因突变筛查

目的研究中国人散发性视网膜色素变性（sporadic retinitis pigmentosa，SRP）患者视紫红质（rhodopsin，RHO）基因突变频率及特征，揭示其在SRP发病机制中的潜在作用。方法运用聚合酶链反应一单链构象多态性（polymerase chain reaction—single—strand conformation polymorphism，PCR—SSCP）结合DNA测序技术，对80例SRP患者和80例健康对照者进行RHO基因5个外显子的突变筛查。结果SRP患者RHO基因5个外显子PCR扩增产物经SSCP分析后，发现其电泳带型与对照组一致，均包括2条单链带和1条双链带，且电泳迁移率相同，即在患者和对照组中均未检测到RHO基因突变。结论中国人SRP患者RHO基因外显子的突变率较低；PCR—SSCP分子遗传学方法快速、简单、灵敏，适用于大批量RP患者的基因变异筛查。（中国眼耳鼻喉科杂志，2008，8：351—353）     

視網膜色素變性(RP)患者的EOG异常改變

目的探討RP患者眼電圖(EOG)的特徵以及EOG作為評估RP手術療效的客觀指標的可能性.方法采用MVT-3型視覺電生理儀的EOG采集和分析軟件,對正常對照組和RP患者組在術前與術後進行檢測.結果(1)105名RP患者的EOG曲綫大體可分為兩種類型,即彎曲型與平坦型.彎曲型EOG各項參數較接近正常組EOG,該組絕大部分患者的視野為斑駁狀;而平坦型EOG的一些主要參數(如Arden比和G比值等),明顯地低于正常組,該組患者的視野多為管狀視野或視野完全缺損.(2)在進行手術後半年以上復查EOG,則一些主要參數數值增加,有的患者(34.5%)的EOG由平坦型轉變為彎曲型.結倫RP患者的EOG具有為該病所特有的特徵,術後隨主觀癥狀的改善,EOG异常也恢復或部分恢復,這些都可作為該病診斷以及術後療效評估的客觀指標之一.     

神经营养因子治疗视网膜色素变性的研究进展

神经营养因子是能够促进神经元存活、生长、分化及维持其功能的多效性肽类因子的总称,可被作为有效的神经保护剂用于治疗多种神经变性类疾病.视网膜色素变性(RP)是以光感受器-视网膜色素上皮复合体损害为主的高度遗传异质性视网膜变性疾病,神经营养因子作为不针对致病基因的RP治疗策略,其疗效已在多种视网膜变性的动物模型中得到证实.以病毒为载体的转基因治疗和细胞包囊技术为神经营养因子提供了有效的给药途径,可使疗效明显提高.对神经营养因子在视网膜中的表达及其调节、受体分布特点、作用通路、疗效及副作用等方面的深入研究为神经营养因子的临床应用奠定了基础.