非典型视网膜色素变性的眼底血管造影分析

目的 探讨非典型视网膜色素变性(RP)的眼底血管造影特点。方法 诊断为非典型RP的15例(30眼)患者，行眼底彩色照相、荧光素眼底血管造影(FFA)，其中5例同时做了吲哚青绿血管造影(ICGA)检查。结果 15例非典型RP包括中心性RP3例；无色素性RP4例；白点状RP2例及Bietti’s结晶样RP6例；彩色眼底像显示其眼底表现各有特点，但FFA均显示有程度及范围不一的椒盐状透见荧光及多灶性脉络膜萎缩；ICGA早期可见脉络膜血管透见性增强，后期比FFA更清楚显示多灶性脉络膜萎缩的边界范围。结论 眼底彩色照相、FFA和ICGA结合检查，有助于更全面了解不同类型的非典型RP眼底表现特点以及视网膜、脉络膜循环改变的特征。     

视网膜色素变性的眼底荧光血管造影与吲哚青绿血管造影比较

目的　观察视网膜色素变性患者的脉络膜循环特征 ,探讨视网膜色素变性的发病因素。方法　 14例(2 8眼 )视网膜色素变性患者按常规方法行眼底荧光血管造影和吲哚青绿脉络膜血管造影。结果　 14例 (2 8眼 )眼底荧光血管造影动脉显影时间 12 .92± 2 .14s。造影早期脉络膜背景荧光暗淡 ,周边视网膜可见细点状色素上皮萎缩透见荧光及色素斑块遮蔽荧光 ,中晚期周边及后极部视网膜荧光素渗漏 ,呈斑片状强荧光。吲哚青绿造影动脉显影时间 13.86± 2 .73s。造影显示周边及后极部脉络膜大片毛细血管无灌注。结论　 FFA和 ICGA造影结果表明视网膜色素变性患者脉络膜毛细血管萎缩造成的脉络膜微循环障碍可能是导致视网膜色素上皮及视网膜感光细胞营养不良的因素之一。     

结晶样视网膜色素变性的荧光素眼底血管造影特点分析

目的分析结晶样视网膜色素变性的荧光素眼底血管造影(FFA)特点,进一步探索其发病机制。设计回顾性病例系列。研究对象结晶样视网膜色素变性患者。方法北京同仁医院眼科中心2004～2006年门诊诊断的结晶样视网膜色素变性患者32例。所有患者均行FFA检查。主要指标FFA表现。结果全部患者FFA显示后极部斑驳状、点状透见荧光。背景荧光部分增高,部分减弱。视盘高荧光或部分高荧光8例。2例环以低荧光。动脉血管变细18例,但其中仅3例出现血管充盈迟缓。4例视网膜血管闭塞,且全部位于周边部。3例视网膜后极部血管渗漏。仅1例出现无灌注区。6例黄斑拱环结构破坏或结构不清。结论结晶样视网膜色素变性的FFA特点显示:其病变主要是视网膜色素上皮细胞改变和脉络膜毛细血管的萎缩,同时累及神经视网膜及其视网膜血管组织。     

不同病变阶段视网膜色素变性患者脉络膜血管状态的荧光血管造影特征

目的:探讨不同病变阶段视网膜色素变性患者的脉络膜血管状态.方法:回顾性分析云南省第二人民医院眼科2000年1月至2015年4月诊断为原发性视网膜色素变性的患者226例(452眼)的眼底特征,并复习相关文献,重点分析总结脉络膜血管情况.结果:31例(62眼)病变前期患者,荧光素眼底血管造影显示动脉期脉络膜血管及视网膜血管充盈正常,未出现充盈延迟或缺损现象.25例(50眼)病变早期患者,荧光素眼底血管造影显示动脉前期可见脉络膜背景荧光显示,部分脉络膜毛细血管未同时充盈,动脉期时上述部分完成充盈.106例(112眼)病变中期患者,荧光素眼底血管造影显示动脉期出现部分脉络膜毛细血管萎缩区,仅能看到残存的粗大脉络膜血管,随造影过程的进展,此区域并未出现充盈,即呈现永久的脉络膜毛细血管充盈缺损.64例(128眼)病变晚期患者荧光素眼底血管造影显示,广泛的脉络膜毛细血管萎缩区,其间可见残存的脉络膜粗大血管,至造影晚期均呈现充盈缺损,萎缩区边缘随造影过程呈强荧光表现.结论:荧光素眼底血管造影可显示脉络膜血管萎缩变化情况,这一指标可作为反映不同病变阶段视网膜色素变性患者病情进展变化的重要依据.     

环形视网膜色素变性

报告1例环形视网膜色素变性病人,其临床特征为双眼环绕黄斑的带状色素变性区.视力正常,无夜盲症状,眼底荧光血管造影显示病变区有视网膜色素上皮和脉络膜毛细血管萎缩.结合文献对本病的临床特点、眼底荧光血管造影及鉴别诊断进行简要讨论。 （中华眼底病杂志，1993，9：109-109）     

视网膜及视网膜色素上皮错构瘤1例

目的：报告1例视网膜及视网膜色素上皮错构瘤，并对其临床表现做出具体描述和分析，以期对眼科医师正确诊断本病有所裨益。方法：对1例诊断为“视网膜色素上皮病变”的患者跟踪随访5年，进行常规直接眼底检查、眼底荧光造影和B超检查。结果：本例患者视力在5年内从0．6下降至0．3，眼底镜检查和眼底荧光血管造影无明显变化。结论：视网膜及视网膜色素上皮错构瘤是临床少见病，病史、眼底表现和荧光造影表现是其确诊的依据。     

非典型原发性视网膜色素变性6例

原发性视网膜色素变性是一种临床表现及遗传类型多样的毯层视网膜变性。典型的原发性视网膜色素变性临床常见，非典型的原发性视网膜色素变性临床较少见。现将近几年来我院就诊的6例不同眼底表现的非典型原发性视网膜色素变性报道如下。     

中心性及旁中心性视网膜色素变性及眼底荧光血管造影的分裂

中心性及旁中心性视网膜色素变性及眼底荧光血管造影的分型陈家彝多数典型的视网膜色素变性（ｒｅｔｉｎｉｔｓｐｉｇｍｅｎｔｏｓａ，ＲＰ）的病变主要位于眼底赤道部，主要表现为周边部视网膜受损的症状如夜盲及周边视野缩小。而中心性视网膜色素变性的病变主要位于环绕...     

视网膜色素变性患者的多焦视网膜电图与视网膜光学相干断层扫描的观察分析

目的研究视网膜色素变性(RP)患者的多焦视网膜电图(mERG)与视网膜光学相干断层扫描(OCT)的特性及图像特征。方法对已确诊的6例(12只眼)原发性视网膜色素变性患者和10例(20只眼)正常人的视网膜进行多焦视网膜电图与视网膜光学相干断层扫描检查,并对所得数据进行统计分析。结果RP患者视网膜黄斑中心凹厚度平均值低于正常人,但两者之间无显著差异性,RP患者OCT的视网膜断层反射像与正常反射像相比有较明显的改变;RP患者的多焦视网膜电图各环的反应密度均低于正常人,且有显著性差异,4~6环的潜伏期与正常人相比显著延长。结论多焦视网膜电图可有效地评价RP患者黄斑区及周边视网膜的功能,RP患者OCT的断层扫描像与其已知的视网膜病变特点相一致。     

原发性视网膜色素变性的眼底自发荧光图像特征

原发性视网膜色素变性（retinitis pigmentosa,RP）是一组进行性遗传性营养不良性退行病变,以进行性视野缺失、夜盲、色素性眼底改变和视网膜电图异常为临床特点[1-2]。RP病变严重程度的临床判断主要以视野和视网膜电图的检查结果为主[3]。     

系统性红斑狼疮眼底病变的特征

目的探讨系统性红斑狼疮（SLE）患者的眼底病变的临床特点。方法回顾性系列病例研究。分析2002-2013年在北京协和医院眼科门诊就诊的36例（57眼）经免疫内科确诊为SLE患者的眼底病变情况。其中男4例,女32例;年龄14~71岁,平均（32.6±11.5）岁。常规用裂隙灯显微镜检查前节、散瞳查眼底、眼底照像及FFA。结果57眼中视网膜血管炎24眼;毛细血管前小动脉闭塞18眼;视网膜大血管阻塞17眼,其中视网膜动脉阻塞10眼,视网膜静脉不全阻塞5眼,视网膜动静脉阻塞2眼;视神经病变6眼,其中视神经乳头炎1眼,球后视神经炎4眼,缺血性视神经病变1眼;巨细胞病毒性视网膜炎3眼。结论SLE的眼底病变主要表现为视网膜血管炎、毛细血管前小动脉闭塞及视网膜大血管阻塞。     

Prevalence of retinitis pigmentosa in urban and rural adult Chinese: The Beijing Eye Study

PURPOSE: To determine the prevalence of retinitis pigmentosa in the elderly Chinese population. METHODS: The Beijing Eye Study is a population-based, cross-sectional cohort study and included 4439 subjects out of 5324 subjects invited to participate (response rate 83.4%) with an age of 40+ years. Readable fundus photographs were available for 4027 (90.7%) subjects. Diagnostic criteria for retinitis pigmentosa were visual field defects on frequency doubling perimetry, typical ophthalmoscopic abnormalities such as retinal pigment deposits, retinal arteriole attenuation, and pigment epithelial atrophy, and no other reason for perimetric defects and fundus abnormalities. RESULTS: Retinitis pigmentosa was diagnosed in four subjects (all men). Its prevalence was 0.099+/-3.15% (95% CI: 0.00, 0.2). CONCLUSIONS: Retinitis pigmentosa with typical fundus appearance and functional loss may be present in about 1 out of 1000 elderly Chinese in Northern China. Calculated for the whole population in China, the figure would be 1.3 million patients with retinitis pigmentosa.     

Sjögren reticular dystrophy of the retinal pigment epithelium: a case report

PURPOSE: To describe the clinical manifestations in a patient with Sj?gren reticular dystrophy of the retinal pigment epithelium, and the evolution of the disease over a 20-year follow-up period. CASE REPORT: A 45-year-old woman with Sj?gren reticular dystrophy of the retinal pigment epithelium was seen for the first time in 1983; the patient underwent 20 years of annual check-ups. RESULTS: Over the follow-up period, fundus photographs, computerized perimetry, electroretinogram, and electro-oculogram findings had either normal or slightly subnormal outcome. CONCLUSIONS: The results confirm that this disease involves only the retinal pigment epithelium and should not be considered a central tapeto-retinal degeneration or late onset retinopathy.     

儿童遗传性视网膜疾病的眼底自身荧光表现

目的 观察儿童遗传性视网膜疾病的眼底自身荧光(FAF)特征.方法 回顾性分析22例临床资料完整、年龄5～14岁之问的遗传性视网膜疾病患儿的FAF检查结果.其中,Best卵黄样病变8例16只眼,Stargardt病3例6只眼,视锥细胞营养不良3例6只眼,原发性视网膜色素变性(RP)5例10只眼,X连锁青少年型视网膜劈裂症3例6只眼.仔细询问现病史及家族史,行视力、裂隙灯显微镜眼前节检查,间接眼底镜检查,彩色眼底像和FAF照相,其中部分患儿接受了荧光素眼底血管造影(FFA)、视网膜电流图、眼电图、光相干断层扫描检查.对上述患儿的FAF结果特征进行归纳总结,并与其眼底照相和/或FFA结果进行比较分析.结果 3例Stargardt病患儿的6只眼及3例视锥细胞营养不良患儿的6只眼FAF检查显示黄斑区可见对称性的圆形、近圆形弱荧光或荧光缺如区,2例视锥细胞营养不良患儿的4只眼及1例Stargardt病患儿的2只眼可见弱荧光或荧光缺如区外缘环以强荧光;Best卵黄样病变患儿黄斑区可见一个强度均匀或不均匀的强FAF病灶;RP患儿后极部视网膜FAF增强,黄斑区周围可见宽度不等的环形强荧光带,拱环区FAF正常;3例X连锁青少年型视网膜劈裂症患儿中5只眼中心凹部位FAF检查可见蜂窝或颗粒状强荧光.结论 Stargardt病及视锥细胞营养不良患儿黄斑区为近圆形弱荧光,部分病变区外缘环以强荧光;Best卵黄样病变患儿黄斑区为强度均匀或不均匀的强FAF病灶;RP患儿后极部视网膜FAF增强,拱环区FAF正常,黄斑区周围可见宽度不等的环形强荧光带;X连锁青少年型视网膜劈裂症患儿中心凹部位为蜂窝或颗粒状强荧光.

Abstract：

Objective To observe the autofluorescence (AF) manifestation in children with hereditary retinal diseases. Methods The clinical data of 22 children (aged from 5 to 14 years) with hereditary retinal diseases were retrospectively analyzed. There were 8 children (16 eyes) with Best vitelliform macular dystrophy, 3 children (6 eyes) with Stargardt macular dystrophy, 3 children (6 eyes) with macular cone dystrophy, 5 children (10 eyes) with primary retinitis pigmentosa, and 3 children (6 eyes) with X-linked juvenile retinoschisis. The routine clinical examinations included present history, family history, visual acuity, silt-lamp microscopy, indirect ophthalmoscopy, color fundus photography and fundus autofluorescence angiography (FAF). Some patients received fundus fluorescein angiography (FFA),electroretinogram (ERG), electrooculogram (EOG), and ocular coherence tomography (OCT). The characteristics of AF in all the children were analyzed, and were compared with the images of color fundus and/or FFA. Results Symmetry round macular fluorescent weak or absent area was found in all Stargardt disease and cone dystrophy. Weak AF area with surrounded circular increased AF was found in 2 children (4 eyes) with cone dystrophy and 1 child (2 eyes) with Stargardt macular dystrophy. A central round area with regular or irregular intense AF was observed in Best vitelliform macular dystrophy. RP children showed increased AF out of the macular region. Cellular or granular strong AF was found in the fovea of 3 children (5 eyes) with X-linked juvenile retinoschisis. Conclusion The children with hereditary retinal diseases had special AF changes.     

Central serous chorioretinopathy associated with retinitis pigmentosa

Macular changes may appear in retinitis pigmentosa patients and include macular atrophy, cystoid macular edema, retinal cysts, and holes. However, other primary macular diseases have not been described in patients with retinitis pigmentosa, probably because of atrophy of the retinal pigment epithelium (RPE) and the overlying retina. We present a 35-year-old patient whose first symptom was an acute decrease in visual acuity due to central serous chorioretinopathy (CSCR). Retinitis pigmentosa was subsequently diagnosed. We assume that the macular RPE changes may be attributed to both cone and RPE atrophy or other macular pathophysiologic processes, one of which may be CSCR.     

线粒体脑肌病的眼底病变

目的 观察线粒体脑肌病患者眼底病变的特点、分类及其与全身性表现的关系.方法 回顾性病例研究.对内科住院治疗的88例线粒体脑肌病患者的临床资料进行分析,其中确诊线粒体脑肌病并经眼科会诊发现眼底异常、病历记录资料完整的12例24只眼纳入研究.男性9例,女性3例;年龄14～33岁,平均年龄(20.1±7.0)岁.病程2.5～20.0年,平均病程(9.5±6.8)年.患者均有不同程度的眼外症状,包括肢体无力、听力下降及中枢神经系统症状等.眼科检查行国际标准视力表最佳矫正视力、裂隙灯显微镜、间接检眼镜检查.非接触眼压计眼压检查,上睑下垂情况、眼球运动、瞳孔反射等检查和眼底彩色照相.行荧光素眼底血管造影(FFA)检查3例、光相干断层扫描(OCT)检查1例、视网膜电图(ERG)检查2例,视野检查5例.根据检查结果将视网膜病变分为"椒盐状"眼底、视网膜色素变性(RP)样眼底、视网膜色素上皮(RPE)和脉络膜毛细血管萎缩、单纯视神经萎缩等4种类型.回顾分析时同时观察与全身病变的关系.结果 所有患者均为双眼发病,双侧病变程度基本一致.出现上睑下垂和(或)眼球运动障碍者9例,占75.0%;视力下降者6例,占50.0%."椒盐状"眼底者6例12只眼,占有眼底异常改变者50.0%.表现为视网膜颗粒状色素沉着和脱色素;视力0.4～1.2;均无听力下降、抽搐、共济失调、智力减退等中枢神经系统表现.RP样眼底者1例2只眼,占有眼底异常改变者8.3%.表现为视网膜骨细胞样色素沉着、视网膜血管变细、视神经萎缩;双眼视力光感,伴有智力低下、听力下降、双下肢疼痛及发作性抽动.RPE和脉络膜毛细血管萎缩者3例6只眼,占有眼底异常改变者25.0%.可见暴露的脉络膜大血管,周围视网膜可见片状色素堆积;视力跟前手动～0.7;肢体无力2例;听力下降3例;言语不清、智力下降2例;嗜睡1例.单纯视神经萎缩者2例4只眼,占有眼底异常改变者16.7%.视力0.1～0.7;均有肢体无力、抽搐、智力下降、头痛等中枢神经系统表现.结论 线粒体脑肌病患者眼底改变分为"椒盐状"眼底、RP样眼底、RPE和脉络膜毛细血管萎缩和单纯视神经萎缩等4种类型.眼底病变类型与视力预后和中枢神经系统表现有关.     

A new Leu253Arg mutation in the RP2 gene in a Japanese family with X-linked retinitis pigmentosa

PURPOSE: To identify the clinical findings in a Japanese family with X-linked retinitis pigmentosa associated with mutation in codon 253 (Leu253Arg) in the RP2 gene. METHODS: Case reports included clinical features and results of fluorescein angiography, electroretinogram, kinetic visual field testing, and DNA analysis. Two affected hemizygotes with retinitis pigmentosa associated with transversion mutations in codon 253 (Leu253Arg) of the RP2 gene and the obligate carriers were examined. RESULTS: A novel Leu253Arg mutation of the RP2 gene was found to cosegregate with retinal degeneration in two affected males and two carriers in female heterozygote in a Japanese family. The ophthalmic findings in hemizygote showed severe retinal degeneration. In the obligate carrier, mild chorioretinal degeneration was observed in both eyes but a tapetal-like reflex of the fundus was not apparent. CONCLUSIONS: The mutation at codon 253 of the RP2 gene is the first mutation reported in a Japanese family. It is concluded that the mutation of the RP2 gene also causes the X-linked retinitis pigmentosa in Japanese patients.     

部分眼底病眼底自发荧光影像特点初步观察

目的观察部分眼底病眼底自发荧光（AF）的影像特征。方法采用HRA-2共焦激光扫描系统的FA模式检测45例（54只眼）眼底病患者。其中年龄相关性黄斑变性（AMD）17例（23只眼）,中心性浆液性脉络膜视网膜病变（CSC）16例（17只眼）,黄斑裂孔5例（5只眼）,前部缺血性视神经病变（AI0N）5例（5只眼）,视网膜色素上皮挫伤5例（5只眼）,视网膜色素变性2例（4只眼）。结果 AMD的AF影像呈低信号,边缘常见环形高信号。CSC的AF影像所见大多在渗漏的附近呈高荧光。全层黄斑裂孔的AF影像呈圆形高信号。所有病例在视网膜色素上皮挫伤区域的自发荧光普遍弥漫性增强,色素脱失处大多表现为低荧光,在总体增强区域表现为地图状的自发荧光。视网膜色素变性表现黄斑区环形高荧光。结论眼底出血时AF表现为遮蔽。视网膜下积液导致荧光信号降低,褐质积累,荧光信号增强。色素上皮萎缩荧光消失。AF影像是评价视网膜色素上皮的有效方法。     

Extensive intrafamilial and interfamilial phenotypic variation among patients with autosomal dominant retinal dystrophy and mutations in the human RDS/peripherin gene.

Clinical phenotypes of patients with mutations in the human RDS/peripherin gene are described. A 67-year-old woman, who carried a 1 base pair deletion in codon 307, presented with typical late onset autosomal dominant retinitis pigmentosa (RP). In another autosomal dominant pedigree, a nonsense mutation at codon 46 caused 'inverse' retinitis pigmentosa-like fundus changes associated with progressive cone-rod degeneration in a 58-year-old man, whereas his 40-year-old son presented with yellow deposits in the retinal pigment epithelial layer resembling a pattern dystrophy, and with moderately reduced rod and cone function, as determined by two colour dark adapted threshold perimetry and electroretinography. It is suggested that both clinical pictures within this latter family may represent manifestations of fundus flavimaculatus. The clinical data of the three patients provide further evidence for the remarkable variety of disease expression within and between families with mutations in the RDS/peripherin gene. Currently, the most comprehensive statement could be that RDS/peripherin mutations are associated either with typical RP or with various forms of flecked retinal disease.