重庆忠县原发性开角型青光眼家系的临床表型和遗传学分析  

Analysis of clinical phenotype and mode of inheritance of POAG family in Chongqing,China

作　　者：李世宏[1] 贺翔鸽[1] 许建涛[1] 程华琳[1] 

机构地区：[1]第三军医大学大坪医院野战外科研究所眼科,中国重庆市400042

出　　处：《国际眼科杂志》2008年第5期948-950,共3页International Eye Science

摘　　要：目的：对重庆POAG家系进行调查,分析遗传特点和临床表型。方法：追踪家系成员,收集病史资料,进行眼科常规检查。总结家系POAG患者发病的临床特点,根据孟德尔法则对本家系遗传方式进行分析。结果：该家系可追踪到的有5代共54例,男29例,女25例。已确诊的POAG患者17例,男11例,女6例,6例死亡。确诊年龄28～64（平均38.6）岁。发病眼眼压25～39mmHg,平均31.63±5.14mmHg。治疗后视野视力仍进行性恶化的7例。结论：该家系患者符合青年性POAG,常规治疗效果差,应存在除机械压迫以外的其他致病因素。家系中POAG发病者为突变等位基因常染色体显性遗传的结果,在本家系中存在导致POAG发病的突变的等位基因。AIM. To explore the clinical characteristic and mode of inheritance of POAG. METHODS： Proband with POAG and all of family members were followed up and evaluated by detailed history and physical examination and ophthalmological routine examination. RESULTS： This pedigree consisted of 54 individuals extending through five generations： 29 males, 25 females. Seventeen individuals had been diagnosed POAG including 11 males and 6 females, in whom six cases died. Their final diagnosis ages were 28-64 years old, with the average of 38. 6 years old. Their onset intraocular pressures （lOP） were 25-39mmHg （average 31.63 ± 5. 14mmHg）. Visual acuity and visual field in seven individuals with POAG who had been treated still aggravated progressively. CONCLUSION： This family should be diagnosed as youth POAG, and conventional therapy is ineffective. There are other pathogenic factors apart from mechanical pressure. Pedigree analysis suggests that POAG cases in this family are autosome dominant heredity, and that the allele mutation induces the onset of POAG in this family.

关 键 词：原发性开角型青光眼 家系 遗传学 

分 类 号：R775[医药卫生—眼科]