Electroretinographic findings in retinitis pigmentosa

Full-field electroretinograms (ERGs) provide a basis for establishing the diagnosis of widespread progressive forms of retinitis pigmentosa in early life even at a time when fundus abnormalities visible with the ophthalmoscope are minimal or absent. Patients characteristically show delays in rod or cone b-wave implicit times or both, while patients with self-limited sector retinitis pigmentosa or stationary night blindness have normal b-wave implicit times. ERGs are presented to show their usefulness in detection of female carriers of X-chromosome-linked retinitis pigmentosa, in quantitating the natural course of all types of retinitis pigmentosa, and in detecting an abnormal rod ERG diurnal rhythm in the dominant form. Potential therapies for the retinitis pigmentosa associated with abetalipoproteinemia and Refsum's disease are also considered.     

Hemodynamic findings in patients with retinitis pigmentosa]

The hemodynamic status of 26 patients with retinitis pigmentosa was examined using video fluorescein angiography. The hemorheological parameters hematocrit, plasma viscosity, erythrocyte aggregation and erythrocyte rigidity were determined. The results were compared to a matched pairs-group. Video angiography showed for retinitis pigmentosa patients a normal arm-retina time and a significant increase of the arteriovenous passage time. The rheological parameters for both groups were within the reference range. Interestingly the hemodynamic disturbance of microcirculation could be demonstrated already in early stages with no ophthalmoscopic symptoms and no atrophy of retinal vessels detectable at the time. The results indicate that disturbance of the retinal hemodynamics in early stages of retinitis pigmentosa may play a role in the pathogenesis of the disease.     

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。     

儿童视网膜色素变性临床特点分析

目的探讨儿童视网膜色素变性在诊断和治疗方面的临床特点。方法将符合准入标准的27名14岁以下视网膜色素变性患者在进行视野检查后,分为有家族史患者组和无家族史患者组,用二十二碳六烯酸胶囊、β-胡萝卜素胶囊、血脂康胶囊治疗1年,以中心视力和视野平均缺损敏感度（MD）作为疗效的观察指标。观察总结儿童视网膜色素变性患者在诊断和治疗中的临床特点。结果归纳儿童视网膜色素变性患者的临床特点有：（1）他人发现患者患病;（2）全自动视野检测是首选的检查手段;（3）可能会有极少数患者被误诊;（4）无家族史患者比有家族史患者的治疗效果好。结论儿童视网膜色素变性患者具有4个临床特点。     

Clinical investigation of retinitis pigmentosa

The diagnostic features and future research directions of retinitis pigmentosa were documented in this update and review of the subject. An extensive and current bibliography is provided.     

Clinical and serum lipid findings in a large family with autosomal dominant retinitis pigmentosa

Retinitis pigmentosa, of unknown cause, has recently been associated with decreased amounts of the polyunsaturated fatty acid, docosahexaenoic acid, in the plasma of affected as compared with unaffected relatives. It has been suggested that this finding may serve as a marker for the disease and might indicate alterations in photoreceptor cell metabolism. The authors studied 54 members of a family with dominantly inherited retinitis pigmentosa in five generations. In addition to the typical clinical findings of retinitis pigmentosa, eight persons also had a bull's eye maculopathy, and four persons had uni- or bilateral optic nerve drusen. When the authors determined the plasma fatty acid and lipid contents, they saw the expected age-related effect on cholesterol and triglycerides, but an unexpected, significant reduction in fatty acids in the unaffected controls as compared with persons with retinitis pigmentosa. The authors' results emphasize the heterogeneity of phenotypic expression of retinitis pigmentosa within a single family.     

A review of the immunologic findings observed in retinitis pigmentosa

Most patients suffering from retinitis pigmentosa (RP) inherit the disorder; however, the immune-pathologic features associated with this disease have yet to be extensively studied. Six reports correlate antiretinal immune activity with vision deterioration in RP patients. Some of these patients have sporadic RP that occurs in excess of expected gene segregation during inheritance. The hypothesis that a primary immune-mediated disease process occurs in this sporadic group is supported by significant associations of RP with autoimmune endocrinopathies and other immune-related conditions or factors; however, no immunologic difference regarding RP family history is reported in the peripheral blood studies of RP patients. Twenty-one percent to 51% of RP patients display antiretinal antibodies, whereas 19–58% have antiretinal lymphocyte reactivity to retinal extract, and 60–85% have activated T cells. Mutations in animal models of RP have been shown to cause endoplasmic reticulum stress that may initiate immunopathology for genetic RP, but oxidative stress also encourages immune cytotoxicity. In addition, necrotic cell death is evident, which promotes inflammatory conditions. We review mechanisms and evidence for an occult inflammation in genetic RP and examine reports of efficacy in retarding RP progression with anti-inflammatory agents in clinical trials.     

视网膜色素变性和先天性静止性夜盲的mERG检查

目的　比较视网膜色素变性 (RP)和先天性静止性夜盲 (CSNB)的多焦视网膜电图 (mERG)特征。方法　对 8例RP患者 14眼和CSNB患者 14眼进行mERG、传统ERG和视野检查。检测分别采用德国罗兰公司的RETI Scangamma型视觉电生理测试系统、日本光电株式会社的Neuropack Ⅱ视电生理仪和Topcon公司的SBP 2 0 2 0型全自动视野计进行。检查结果与 14只正常眼进行比较。MERG选择一级反应 ,分析 6个环的平均b波振幅 (平均反应密度 )和a、b波平均潜伏值一级视网膜后极部 3 0°范围的振幅和及潜伏值和。结果　RP组 1～ 6环各环的平均振幅与正常组比较明显下降 (P=0 0 0 11～ 0 0 0 0 1) ,而在CSNB组可见 1～ 2环b波振幅的轻度下降 ,但无统计学差异 (P =0 12 89,0 0 5 43 ) ,3～ 6环各环的b波振幅明显下降 (P =0 0 0 61,0 0 0 0 2 ,0 0 0 3 6)。两个患病组的各环a、b波平均潜伏值明显延长 (P =0 0 0 2 7～0 0 0 0 1) ,但较CSNB组的振幅反应异常程度严重 ,后极部 3 0°范围b波潜伏值和及各环a、b波潜伏值的延长在RP和CSNB组均明显延长。结论　MERG在RP和CSNB的诊断中具有不同的意义。RP的mERG特征主要以振幅介导的参数异常为主 ,而CSNB则主要以潜伏值介导的反应异常更为重要     

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.     

Non-syndromic retinitis pigmentosa

Retinitis pigmentosa (RP) encompasses a group of inherited retinal dystrophies characterized by the primary degeneration of rod and cone photoreceptors. RP is a leading cause of visual disability, with a worldwide prevalence of 1:4000. Although the majority of RP cases are non-syndromic, 20–30% of patients with RP also have an associated non-ocular condition. RP typically manifests with night blindness in adolescence, followed by concentric visual field loss, reflecting the principal dysfunction of rod photoreceptors; central vision loss occurs later in life due to cone dysfunction. Photoreceptor function measured with an electroretinogram is markedly reduced or even absent. Optical coherence tomography (OCT) and fundus autofluorescence (FAF) imaging show a progressive loss of outer retinal layers and altered lipofuscin distribution in a characteristic pattern. Over the past three decades, a vast number of disease-causing variants in more than 80 genes have been associated with non-syndromic RP. The wide heterogeneity of RP makes it challenging to describe the clinical findings and pathogenesis. In this review, we provide a comprehensive overview of the clinical characteristics of RP specific to genetically defined patient subsets. We supply a unique atlas with color fundus photographs of most RP subtypes, and we discuss the relevant considerations with respect to differential diagnoses. In addition, we discuss the genes involved in the pathogenesis of RP, as well as the retinal processes that are affected by pathogenic mutations in these genes. Finally, we review management strategies for patients with RP, including counseling, visual rehabilitation, and current and emerging therapeutic options.     

Sector retinitis pigmentosa

Combined clinical, psychophysical and electrophysiological examinations of the visual function were performed in two patients affected by sector retinitis pigmentosa. Psychophysical dark adaptation measurements, the electroretinogram (ERG) and the electro-oculogram (EOG) revealed that a larger area of the neural retina and pigment epithelium were pathologically involved than revealed by ophthalmoscopy and visual field. Five years of observation showed a stationary retinal defect in one patient, while in the other a slight clinical but a marked electroretinographical deterioration was found over a period of twelve years. However, visual acuity and the visually evoked potential (VEP) remained normal. In spite of subnormal ERG amplitudes, the photopic and scotopic peak latencies were normal in both cases. In the ophthalmoscopically normal relatives of one patient slight dark adaptation impairments, as well as EOG and ERG disturbances, were detected.