{"title":"Clinical findings of central retinal vein occlusion in population aged 40 years or less","authors":"华文, 李学东, 刘颖","doi":"10.3969/J.ISSN.1003-0808.2010.09.024","DOIUrl":"https://doi.org/10.3969/J.ISSN.1003-0808.2010.09.024","url":null,"abstract":"目的 研究≤40岁视网膜中央静脉阻塞(CRVO)患者的临床表现及预后.方法 对≤40岁的CRVO患者15例15眼的临床特征进行观察分析,对患眼治疗前后的最佳矫正视力和荧光素眼底血管造影(FFA)不同血管充盈期的臂-视网膜循环时间进行比较,此外对患者的临床表现,包括全身病史和相关的实验室检查进行分析.结果 ≤40岁的患者发生CRVO具有起病急、视力急剧下降、视网膜出血明显、治疗后患者视力提高显著的特点.患者治疗2个月后对数视力较治疗前明显改善(4.97±0.16 vs 3.56±0.14),差异有统计学意义(t=24.912,P<0.01).FFA检查显示,动静脉期、静脉期以及静脉晚期的臂-视网膜循环时间治疗前分别为(21.68±2.97)s、(25.12±2.81)s和(28.13±4.37)s,治疗后分别为(13.51±1.87)s、(14.91±2.55)s和(19.10±3.02)s,治疗后较治疗前明显缩短,差异均有统计学意义(t=13.612、t=18.939、t=9.699,P<0.01).≤40岁的CRVO患者的原发病包括高血压、糖尿病,精神紧张是主要的发病诱因.无严重并发症.结论 ≤40岁的CRVO患者挽救视力的关键在于早期发现和及时治疗。","PeriodicalId":186994,"journal":{"name":"Chinese Ophthalmic Research","volume":"13 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2010-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"114960071","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Exclusive mapping for all known loci in a family with congenital Cataract","authors":"梁小芳, 华芮, 石磊, 肖伟","doi":"10.3969/J.ISSN.1003-0808.2010.08.015","DOIUrl":"https://doi.org/10.3969/J.ISSN.1003-0808.2010.08.015","url":null,"abstract":"目的 对常染色体显性遗传先天性白内障家系进行致病基因的定位研究.方法 对4代11例家系成员(6例患者)进行眼部和全身检查,采集静脉血,提取基因组DNA,选取已报道的与遗传性白内障相关位点附近的微卫星标记,PCR扩增后进行基因型分析,用连锁分析进行排除;没有排除的位点,基因外显子测序.结果 35例家系成员中,追溯调查共有10例患者,其中第1代1例,第2代2例,第3代5例,第4代2例.该家系患者表型为完全性白内障;绝大多数位点,患者没有共享基因型;微卫星标记与致病基因间的2点连锁Lod值<-2,证实这些位点与该家系的致病基因不连锁;有3个多态性标记(D10S1239、D22S286、D22S926)0<Lod值≤0.6,Lod值虽然不是<-2,但在家系患者中没有共享等位基因;测序未发现外显子有突变.结论 此家系的致病基因不是已报道位点的致病基因,其致病基因有待进一步研究。","PeriodicalId":186994,"journal":{"name":"Chinese Ophthalmic Research","volume":"715 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2010-08-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"116126090","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}