家族性遗传性白内障家系谱调查  

Familial hereditary cataract pedigree

作　　者：翟新玲[1] 景明[1] 

机构地区：[1]解放军第四一一医院,上海200081

出　　处：《海军医学杂志》2006年第2期117-119,共3页Journal of Navy Medicine

摘　　要：目的:探讨1例家族遗传性白内障系谱的遗传性类型及致盲规律。方法:在患者就诊时所做系谱调查的基础上,10年后对其变化进行随访。结果:①本家系为常染色体显性遗传类型;②其发病特点及发展规律为:年青时晶体混浊对视力影响不大,成年后病情加速发展,中年因白内障致盲,需白内障手术治疗;③符合绕核性白内障的双侧性静止性的发病特点。结论:根据此类白内障早老性发生的特点,对静止期的患者,应及时指导日常防护并定期随访,成年后用药物延缓病情发展,以推迟因白内障过早致盲。Objective： To inquire into the hereditary type of one familial hereditary cataract pedigree and the development pattern of ablepsia. Methods： On the bases of family pedigree investigation, the patient had 10 years of clinical follow - ups. Results： Positive results were obtained from the investigation. （1） This cataract pedigree proves to be a dominant autosomal inheritance; （2） The onset features and development pattern are： lens opacity did not affect sight seriously at the early age, but after the patient came of age, his conditious deteriorated rapidly, and when the patient was in mid age, he lost sight due to cataract and required cataract extraction; （3） This case conforms to bilateral and stationary onset features in zonular cataract. Conclusion： In line with the presenile onset features of this type of cataract, the patient in stationary phase, should seek medical advice for prevention, have periodic clinical follow - ups, and have medication to postpone development of the illness when he reached adulthood, so as to delay early blindness due to cataract.

关 键 词：先天性白内障 遗传性 家谱调查 白内障摘除术 

分 类 号：R776.1[医药卫生—眼科] Q347[医药卫生—临床医学]