绕核性白内障家系调查

Investigation to a lamellar cataract family

目的 明确一先天性白内障大家系的临床特点、晶状体混浊的组织学改变和该家系的遗传模式。方法 观察家系成员晶状体混浊等眼病情况。家系调查 ,绘制家系图谱。将患者术中取出的晶状体进行病理观察。应用Li Mantal Gart法进行分离分析判断该家系的遗传模式。结果 该家系白内障为典型的绕核性白内障 ,病理结果也提示病理性改变位于胚胎核周围。发病率 64 56% ,各代之间无明显差异。分离分析的结果说明为常染色体显性遗传。结论 证实了该家系为常染色体显性遗传的典型的绕核性白内障 ,遗传性状稳定 。

Ob j ectiveTo investigate the clinical characteristics,histological feature and the heredity mode of a lamellar cataract family.MethodsNearly all the eyes of m embers form a lamellar cataract were examined,especially for the lens.The relati onship of this families was found out for drawing the pedigree analysis.During t he surgery,two cataract lens were extracted for histologic examination.Li-Manta l-Gart method was used for segregation analysis to confirm the pedigree pattern .ResultsAll of families have a typical lamellar cataract confirmed by clinic al and histological examinations.The incidence of cataract in this family was 64 56% without significant difference among every generation.Autosomal dominant h eredity in this family was determined by segregation analysis.ConclusionThis lamellar cataract family belongs to a autosome dominant heredity pattern with s teady heredity character.Our investigation lays a good foundation for further st udy of gene map and gene scan.