硫酸软骨素蛋白多糖在视网膜变性大鼠中的表达

目的 研究硫酸软骨素蛋白多糖(CSPGs)在碘酸钠(NaIO3)诱导的视网膜色素上皮(RPE)细胞变性大鼠中的表达情况.方法 实验研究.24只Sprauge-Dawley(SD)大鼠随机分为4组,正常对照组、造模7d组、造模14 d组、造模28 d组,每组6只.造模组腹腔注射3％ NaIO3(100 mg/kg);取眼球做病理检查,苏木素-伊红(HE)染色及细胞凋亡检测,验证视网膜变性动物模型的建立;免疫荧光法观察视网膜变性大鼠视网膜上CSPGs表达的时空规律;逆转录-聚合酶链反应(RT-PCR)法检测CSPGs多功能蛋白聚糖(Versican) mRNA的表达情况;免疫组织化学法观察视网膜上小胶质细胞表达的巨噬细胞特异性抗原CD68的分布特点.多组比较采用单因素方差分析,两样本间比较采用独立样本t检验.结果 注射NaIO3后,模型大鼠视网膜出现变性改变,且光感受器发牛渐进性凋亡,造模7、14、28 d组凋亡率分别为(21.0±3.5)％、(32.3±2.3)％、(41.7±2.6)％,各组间差异有统计学意义(F=205.27,P＜0.01).造模7d组,CS-56、CD68在脉络膜、视锥视杆层、内核层、节细胞层表达;造模14 d组,CS-56、CD68进一步出现在外核层;造模28 d组,CSPGs继续迁移到外丛状层.随造模时间延长,各层荧光表达逐渐增强,CD68在视网膜各层的表达也明显增多,强度分别为:1.33±0.52、2.67±0.82、4.00±1.10和7.17±1.33,各组间差异有统计学意义(F=38.45,P＜0.01).造模组Versican mRNA表达(1.02±0.06)显著高于正常对照组(0.23±0.02),差异有统计学意义(t=-26.05,P＜0.01).结论 在碘酸钠诱导的视网膜变性动物模型中,随时间延长CSPGs表达范围扩大,表达量增加,并与小胶质细胞分布在大致相同区域,提示CSPGs可能来源于小胶质细胞.     

視網膜色素變性97例的眼電圖研究

目的研究視網膜色素變性的超微結構及病理性改變與眼電圖之間的關系.方法采用視覺電生理技術,封97例視網膜色素變性患者進行眼電圖(EOG)檢測,觀察光峰電位等十項指標,并與47名健康者進行比較.結果視網膜色素變性患者的色素上皮層功能明顯損害,97例視網膜色素變性患者的眼電圖檢測表现爲三種類型(①光波明顯降低(低波型)54例,占55.67%;(②光峰暗谷消失(無波型)14例,占14.43%;③暗谷光峰倒轉(倒置型)29例,占29.90%.低波型者提示色素上皮功能輕度損害;無波型者提示色素上皮嚴重受損,倒置波提示錐髓细胞受損較杆细胞爲重,明通應階段锥髓细胞反應低下.結論眼電圖的檢測有助于視網膜色素變性患者的診斷及判斷病程進展情况.     

Adrenomedullin plasma concentrations in patients with retinitis pigmentosa

PURPOSE: To evaluate the relationship between retinitis pigmentosa (RP) and plasma adrenomedullin (ADM) levels. METHODS: Blood samples were obtained from a group of 40 consecutive patients with RP matched with 35 healthy subjects (HS) as control. We carried out a complete ophtalmological examination. The study group included 26 patients with RP and 14 patients with syndromic RP. Plasma ADM levels were determined in duplicate with a specific radioimmunoassay method. RESULTS: In the HS plasma ADM levels were 13.7 +/- 6.1 pg/mL. The mean of plasma ADM concentrations in all patients with RP (23.4 +/- 10.7 pg/mL) was significantly (P < 0.0001) higher than that of HS. Moreover, in the syndromic RP patients, plasma ADM levels (28.6 +/- 14.35 pg/ml) were higher than those of HS and RP patients (P < 0.0017). CONCLUSION: The increase of plasma ADM levels in RP patients may be a response to photoreceptor damage.     

Estudio de densidad vascular en pacientes con retinitis pigmentosa por medio de angiografía por tomografía de coherencia óptica

AimsTo describe the changes in vessel density (VD) using optical coherence tomography angiography (OCTA) of the different sectors in the macular area between retinitis pigmentosa (RP) patients and controls.MethodsObservational case-control study. We initially included 22 patients with RP and 21 controls. We obtained 6x6 OCTA images of the macular area using Angio-OCT SS-DRI-Triton 1.22 (Topcon, Japan), together with visual acuity, biomicroscopy, visual field and optical coherence tomography examination. We compared the VD values in both groups for both superficial (SVP) and deep vascular plexus (DVP). Correlation between VD and macular thickness was also calculated.ResultsThe mean visual field index (VFI) in the RP group was 26.11% (±17.29). VD was significantly lower in the RP group compared with healthy controls in all sectors of the DVP (Superior 43.48±3.79 vs 48.86±2.62, P<.0001; Nasal 40,52±4.30 vs 46,01±3.23, P=.0002; Inferior 42.76±5.26 vs 50.10±3.36, P<.0001; Temporal 40.42±4.46 vs 46.09±2.91, P=.0001) and in all but nasal sector in the SVP (Superior 39.86±4.46 vs 46.47±2.61, P<.0001; Nasal 40.35±4.56 vs 44.09±2.87, P=.0067; Inferior 40.74±4.61 vs 46.58±3.26, P=.0002; Temporal 39.98±5.07 vs 44.78±3.28, P=.0024). Correlation between VD and macular thickness was positive and significant (RP: r=.59, P=.043; controls r=.51, P=.018).ConclusionsPatients with advanced forms of RP have less vessel density in the macular area than healthy subjects. These differences are present in all four quadrants in the DVP and three in the SVP.     

Whole exome sequencing identified a novel single base pair insertion mutation in the EYS gene in a six generation family with retinitis pigmentosa

Retinitis pigmentosa (RP) is a group of inherited progressive retinal dystrophies (RD) and is characterized by photoreceptor degeneration. RP is clinically and genetically heterogeneous disorder. More than 70 genes are known and, thus, identification of causative genes and mutations in known genes is challenging. This study was designed to identify the underlying genetic defect in a large extended Saudi family with multiple RP affected members. Fundus photography, Optical Coherence Tomography (OCT) and visual field perimetry were performed for affected individuals. Whole exome sequencing was used to detect the underlying genetic defect in a large family with 12 affected individuals showing autosomal recessive isolated RP. WES data analysis identified a novel insertion mutation in the EYS (eyes shut homolog) gene (c.910_911insT; p.Trp304LeufsTer8). Sanger sequencing validates the variant discovered through exome in all 12 affected individuals and showed that this mutation is segregating with RP phenotype in an autosomal recessive manner in 51 individuals of the family tested here. Our study expands the mutation spectrum of EYS gene in RP patients and extends the body of evidence that supports the importance of EYS gene in eye development.     

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.     

Assessment of Functional Vision Score and Vision-Specific Quality of Life in Individuals With Retinitis Pigmentosa

Purpose

To determine the relationship between the American Medical Association''s (AMA) functional vision score (FVS) and vision-specific quality of life in retinitis pigmentosa (RP) patients using the National Eye Institute''s Visual Functioning Questionnaire (NEI-VFQ 25).

Methods

One hundred eight patients with RP participated in the study. We measured best-corrected visual acuity, conducted Goldmann perimetry, and collected the self-reported NEI-VFQ 25. The FVS was calculated using the functional field score (FFS) and the functional acuity score (FAS). The correlations of the VFQ composite scores to the FVS, FFS, and FAS were determined using correlation and regression analyses.

Results

FVS was highly correlated to the BCVA (r=0.69, p<0.001), the FFS (r=0.86, p<0.001) and the FAS (r=0.73, p<0.001). Significant correlations of the VFQ composite score to the BCVA (r=0.60, p<0.001), FFS (r=0.44, p<0.001), FAS (r=0.60, p<0.001), FVS (r=0.58, p<0.001) were also found. However, the correlation strengths of BCVA, FVS, FAS, and FFS to NEI-FVQ were not different.

Conclusions

In RP patients, the vision-specific quality of life was correlated with the AMA guidelines'' FVS, FFS, and FAS. Their correlation degrees to NEI-FVQ were not different. This result suggests that vision-specific quality of life can be explained by both visual acuity and visual field in RP patients.     

特发性视网膜血管炎、动脉瘤、视神经视网膜炎综合征和Eales病荧光素眼底血管造影对比分析

目的 观察特发性视网膜血管炎、动脉瘤、视神经视网膜（IRVAN）综合征和Eales病荧光素眼底荧光血管造影（FFA）特征的异同。方法 回顾分析IRVAN综合征患者4例8只眼和Eales病患者43例68只眼的FFA检查资料。所有患者均行常规眼科检查,包括视力、眼压、裂隙灯显微镜、间接检眼镜眼底检查。4例Eales病患者单眼玻璃体积血眼底窥不清,行对侧眼检查,其他所有患者双眼常规彩色眼底照相、共焦激光扫描FFA检查。IRVAN综合征4例8只眼,均为双眼发病。男性1例, 女性3例;年龄16～43岁,平均年龄（27.00±12.93）岁。Eales病43例68只眼, 男性32例, 女性11例;年龄6～59岁,平均年龄（30.79±11.46）岁。双眼29例54只眼,单眼14例14只眼。两组患者眼底均可见视网膜血管白鞘或白线状改变、视网膜出血渗出、玻璃体积血。结果 FFA检查结果显示,IRVAN综合征8只眼后极部动、静脉均受累;均可见多发性视网膜大动脉瘤。周边部毛细血管闭塞形成无灌注区7只眼,占87.50%;视盘水肿荧光渗漏5只眼,占62.50%;视神经萎缩2只眼,25.00%;出血遮挡1只眼,占12.50%;视盘新生血管2只眼,占25.00%;视网膜新生血管4只眼,占50.00%;黄斑水肿4只眼,50.00%。Eales病43例68只眼中,所有患眼周边病变区视网膜静脉管壁渗漏;累及后极部静脉32只眼,占47.06%;动脉同时受累5只眼,占7.35%;周边部毛细血管闭塞形成无灌注区38只眼,占55.88%;视盘渗漏29只眼,占42.65%;视盘新生血管4只眼,占5.88%;视网膜新生血管26只眼,占38.24%;黄斑水肿15只眼,占22.06%。IRVAN综合征与Eales病患者在后极部动脉受累眼数、静脉受累眼数、动脉瘤眼数之间比较,差异有统计学意义(P均＜0.05);视盘渗漏、无灌注区、视盘和视网膜新生血管、黄斑水肿眼数之间比较,差异无统计学意义(χ2=0.479,1.449,0.068,1.676;P＞0.05)。结论 IRVAN综合征和Eales病均可发生视网膜动脉和静脉不同程度的炎性改变,并均可导致视盘水肿渗出。IRVAN综合征后极部视网膜动、静脉受累明显高于Eales病,特别是视盘旁及后极部特征性大动脉瘤样改变有助于IRVAN综合征的诊断及IRVAN综合征和Eales病的鉴别诊断。     

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.     

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.