眼皮肤白化病的临床表现与危害  

Clinical Manifestation and Hazard of Oculocutaneous Albinism

作　　者：李洪义[1] 魏海云[1] 吴维青[2] 郑辉[3] 

机构地区：[1]中山大学中山医学院医学遗传学研究室,广东省广州市510089 [2]深圳市妇幼保健院 [3]暨南大学医学院分子生理学研究室

出　　处：《中国全科医学》2006年第14期1211-1212,共2页Chinese General Practice

基　　金：广东省自然科学基金(04009328);广东省医学科研基金(A2005345);广州市科技局应用基础研究计划(2004J1-C0112)

摘　　要：眼皮肤白化病是一组与黑色素生物合成有关的遗传性疾病,表现为眼、皮肤、毛发黑色素缺乏等。黑色素缺乏可引起眼的一系列异常表现,如严重的视力低下、畏光、眼球震颤等;患者皮肤极易被紫外线晒伤而患皮肤癌;由于其特殊的表型,白化病患者的心理发育也会受到一定程度的影响。本文重点介绍眼皮肤白化病的临床表现及危害。Oculocutaneous albinism in eye skin is a series of hereditary disease related to melanin biosynthesis, which is mainly short of melanin of eye, skin, hair and brings various hazard to patients. In the course of eye development, the melanin lacking causes a series of abnormal manifestation, such as severe eyesight decrease, photophobia, nystagmus, etc. The patients＇ skin is easy to be sunburnt by ultraviolet ray and the possibility of skin cancer will increase greatly; the mental development of albinism patients will be influenced in some extent for the special phenotype. So ablinism patients need care, understanding and help of social circles.

关 键 词：白化病 眼 临床表现 

分 类 号：R596.2[医药卫生—内科学]