Pigmentary degeneration indwed by N-methyl-N-nitrosourea and the fate of pigment epithelial cells in the rat retina

Pigmentary degeneration of the retina was induced by a single intraperitoneal Injection of 75mgkg of N-methyl-N-nitrosourea (MNU) In female Brown-Norway colored rats at 50 days of age, which were then observed at 24, 48 and 72 h and 7, 21,35 and 150 days after the treatment. MNU-treated rats showed selective destruction of the photoreceptor cells by an apoptotic mechanlsm 24 h after the treatment, and the destruction was completed by day 7. During the photoreceptor cell degeneration, proliferation of Miller cells and infiltratlon of macrophages was prominent 72h and 21 days aRttr the treatment, respectively. Müller cell proliferation and macrophage infiltratbn corresponded to degenerative photo-receptor cell phagocytosis, and prollferating Müller cell processes responded to stabilize the damaged retina. Pigment epithelial cell detachment from the Bruch's membrane was seen 72 h after the treatment, and migration within all layers of the retina was seen at day 7 when photoreceptor Cells were lost. At 21, 35 and 150 days after the treatment, lack of photoreceptor cells and deposition of pigment epithelial cells within the retina but not in contact to vascular endothe-lial cells were characteristic. MNU-induced photoreceptor apoptosis followed by Miiller cell and macrophage reaction then pigment epithellal cells deposition withln the retina partially resembles retinitis pigmentosa in humans.     

糖尿病大鼠视网膜基因表达谱差异的初步分析

目的 建立大鼠正常视网膜和糖尿病8周视网膜基因表达谱，比较两者差异，初步分析糖尿病视网膜病变的相关基因。方法 通过限制片段差异显示 PCR（ restriction fragments differential display-PCR，RFDD-PCR）获得正常大鼠视网膜及8周糖尿病大鼠视网膜组织转录组片段。应用Fraent Analysis等软件，对差异片段进行生物信息学分析，初步确定糖尿病视网膜病变相关基因／表达序列标签（ expression sequence tag, Ksr）。结果 获得有意义的片段共3639个，有差异的片段840个，占表达数的23．08％。其中包括5个视觉传导相关基因，13个兴奋性神经递质受体基因和3个抑制性神经递质受体基因。糖尿病8周大鼠视网膜Rhodopsin kinase,β-arrestin,Phosducin, rod photoreceptor cGMP-gated channel 和 Rpe65的表达下调，离子型谷氨酸受体iGluR1-4下调，代谢性谷氨酸受体及γ-氨基丁酸受体各亚型则普遍上调，而甘氨酸受体表达无变化。结论 糖尿病8周大鼠神经视网膜已受到累及，其基因表达模式的改变，可能与糖尿病早期视功能损害有关。     

A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT,the gene associated with Sanfilippo C mucopolysaccharidosis

Pathogenic variants in the gene HGSNAT (heparan‐α‐glucosaminide N‐acetyltransferase) have been reported to underlie two distinct recessive conditions, depending on the specific genotype, mucopolysaccharidosis type IIIC (MPSIIIC)—a severe childhood‐onset lysosomal storage disorder, and adult‐onset nonsyndromic retinitis pigmentosa (RP). Here we describe the largest cohort to‐date of HGSNAT‐associated nonsyndromic RP patients, and describe their retinal phenotype, leukocyte enzymatic activity, and likely pathogenic genotypes. We identified biallelic HGSNAT variants in 17 individuals (15 families) as the likely cause of their RP. None showed any other symptoms of MPSIIIC. All had a mild but significant reduction of HGSNAT enzyme activity in leukocytes. The retinal condition was generally of late‐onset, showing progressive degeneration of a concentric area of paramacular retina, with preservation but reduced electroretinogram responses. Symptoms, electrophysiology, and imaging suggest the rod photoreceptor to be the cell initially compromised. HGSNAT enzymatic testing was useful in resolving diagnostic dilemmas in compatible patients. We identified seven novel sequence variants [p.(Arg239Cys); p.(Ser296Leu); p.(Phe428Cys); p.(Gly248Ala); p.(Gly418Arg), c.1543‐2A>C; c.1708delA], three of which were considered to be retina‐disease‐specific alleles. The most prevalent retina‐disease‐specific allele p.(Ala615Thr) was observed heterozygously or homozygously in 8 and 5 individuals respectively (7 and 4 families). Two siblings in one family, while identical for the HGSNAT locus, but discordant for retinal disease, suggest the influence of trans‐acting genetic or environmental modifying factors.     

玻璃体视网膜手术病因分析

目的：研究玻璃体视网膜手术的主要致病。方法：对449例玻璃体视网膜手术做回顾性分析,男243例,女206例,术前视力光感－0．2;平均病史11．6月,手术采用三切口闭合式玻璃体切割术,结果：449例诊断明确,与术前诊断符合率为80．6％,病因中视网膜血管性疾病114例,占25．39％,眼外伤85例,占18．93％,糖尿病视网膜病变82例,占18．26％,黄斑部病变41例,占9．13％,孔源性视网膜脱离39例,占8．69％,眼内炎25例,占5．57％,结论：玻璃体视网膜手术正走向成熟,其适应证逐渐扩展,已成为治疗眼后段疾病的重要手段。     

高血压性视网膜病变的视觉电生理改变探讨

目的：探讨高血压性视网膜病变的闪光视网膜电网（FERG）,振荡电位（OPs)改变,方法：比较正常对照组15例30只眼和不同眼底分毋组的原发性高血压病患者,共49例98只眼的FERG,OPs的变化。结果：1．FERG：a波潜伏期：对照组与I级组相比差异无显著性,与Ⅱ,Ⅲ级组相比差异均有显著性;I级组与Ⅱ级组间差异无显著性,但I级与Ⅲ级,Ⅱ级与Ⅲ级组间差异均有显著性;a波振幅：对照组与I级组间差异无显著性,与其他各组间差异均有显著性;各级患者组间差异均有显著性;b波潜伏期,除I级与II级组间差异无显著性外,其余各组间差异均显著;b波振幅;除对照组与I级组间差异无显著性外,其余各组间差异均有显著性,2．OPs潜伏期：对照组各子波与I级组以及OP1,OP4及Ⅱ级组间差异无显著性,与其他各组间差异均有显著性,I级各子波与II级组间差异无显著性,与Ⅲ级组间差异显著,Ⅱ级与Ⅲ级组间差异显著。OPs振幅：对照组OP3与I级组间差异无显著性,其余比较差异均有显著性,除I级与Ⅱ级组间的OP4振幅差异无显著性外,各级患者组间的各子波振幅以及总振幅差异均有显著性。结论：FERG,OPs可作为高血压性视网膜病变及其严重程度的客观定量指标。     

玻璃体切除术联合视网膜激光光凝治疗严重增殖性糖尿病视网膜病变的疗效分析

目的：分析玻璃体切除术治疗严重增殖型糖尿病视网膜病变（ＰＤＲ）的疗效。方法：ＰＤＲ患者３１例（３５眼）,在控制血糖、血压情况下行玻璃体切除术,术中均作次全或全视网膜光凝。分析手术前后及随访６～３２个月的资料。结果：最后随访时,视网膜平伏,眼底清晰可见,保留一定视力的手术成功眼为２９眼,最后成功率为８２．９％;病变较轻组比病变重度组成功率高（Ｐ〈０．０５）;出血时间〉６个月组较出血时间≤６个月成功率     

血浆内皮素和非酯化脂肪酸改变与糖尿病视网膜病变的关系

目的：为探讨血浆内皮素（ＥＴ）和非酯化脂肪酸（ＮＥＦＡ）水平与糖尿病视网膜病变（ＤＲ）Ｒ 关系。方法：分组分析了５６例伴和不伴ＤＲ的２型糖尿病（ＤＭ）人血浆ＥＴ和ＮＥＥＡ水平,并与正常人进行了比较。结果：２型ＤＭ病人血浆ＥＴ水平明显高于正常人,伴有ＤＲ组病人又明显高于无ＤＲ的病人。     

Non-radioactive hybridization in microwells using enzyme linked immune sorbent assay for detection of RT-PCR-Am-plified CK19- and CEA-mRNA

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