《罕少病学目录》.docVIP

罕少病学目录 第一章 总论 罕少疾病发展简史·········································1 罕少疾病的范畴···········································1 有关罕少疾病的立法·······································1 罕少疾病学习和思维方法·································· 1 罕少疾病的定义···········································2 罕少疾病研究现状·········································2 罕少疾病流行病学研究··································· 2 罕少疾病分布规律·········································2 罕少疾病的遗传学研究···································· 2 罕少疾病分子生物学·······································2 罕少疾病的免疫学·······································2 罕少疾病诊断原则·······································2 罕少疾病治疗原则·······································3 罕少疾病预防控制·······································4 罕少疾病药物开发与应用·································5 第二章 眼科疾病 第一节 眼先天性疾病·············································· 6 先天性无眼球 定义：先天性无眼球（congenital anophthalmus）是一类以眶内眼组织完全缺失为特征的先天性发育异常性眼科疾病，因原始视泡未从脑泡发生，而导致眼眶内完全没有眼球的组织结构，常伴有其它眼部病变 [1]。临床上定义为在眼附属器（眼睑、结膜、泪器）存在的情况下，眼球完全缺失[2]。 参考文献 1.Ragge NK,Subak Sharpe ID,Collin JR.A practical guide to the management of anophthalmia and microphthalmia[J]. Eye, 2007,21: 1290-1300. 2.Verma AS, Fitzpatrick DR. Anophthalmia and microphthalmia. Orphanet J Rare Dis,2007,2：47. 先天性独眼畸形 定义:先天性独眼畸形(congenital cyclopia)是以眼眶融合和单个眼裂为特征的先天性畸形，是无耳前脑无裂畸形的极端型[1]，常伴随鼻、口等其它畸形，发生率为1.05/100000(包括死产) [2] 参考文献 1.Karantanas AH,Papanikolaou N, Danos A, Antonakopoulus G. Cyclopia and exadactyly: CT and MRI findings[J]. Dentomaxillofac Radiol. 1999,28(6):372-374. 2.Cannistr C, Barbet P, Parisi P, Lannetti G. Cyclopia: a radiological and anatomical craniofacial post mortem study[J]. J maxillofac Surg. 2001,29(3): 150-155. 先天性无虹膜 定义:先天性无虹膜(congenital aniridia)是虹膜完全或大部分缺失的先天性眼部异常，常合并角膜浑浊、白内障、眼球震颤、青光眼及黄斑发育不良等眼部异常[1]，还可有全身性异常如泌尿生殖系统疾病、智力迟钝等。本病为常染色体显性遗传，外显率较高，常为双眼发病[2]，目前认为是PAX6基因突变导致神经外胚层和中胚叶发育异常所致[3]。 参考文献1.Tan JS, Tan KL, Lee JC, et al. Comparison of eye lens dose on neuroimaging protocols between 16- and 64-section multidetector CT: achieving the l