论文部分内容阅读
报告先天性无虹膜19例,其中8例有常染色体显性遗传的家族史;眼部表现多样如睑下垂、角膜混浊、房角异常、白内障、黄斑光反射消失、视乳头小、眼球震颤、外斜视、ERG 异常,其中以白内障最多见;视力从指数至0.5。2例有隐睾,其中1例智力异常,符合 AGR 综合症。9例染色体 G 带分析无异常发现。文中对先天性无虹膜的病因、遗传、临床表现,分类、治疗,结合文献作了讨论;并提出病例虽暂未肯定有青光眼及 Wilm’s 瘤,但应作定期随访。
Reported 19 cases of congenital absence of iris, of which 8 cases had autosomal dominant family history; multiple ocular manifestations such as ptosis, corneal opacity, abnormal angle, cataracts, macular reflex disappeared, papilledema, nystagmus, Exotropia, ERG abnormalities, of which the most common cataract; visual acuity from the index to 0.5.2 cases of cryptorchidism, including 1 case of intellectual abnormalities, in line with AGR syndrome. 9 cases of chromosome G-band analysis found no abnormalities. The etiology, heredity, clinical manifestation, classification, treatment and combination literature of congenital absence of iris are discussed in this article. It is suggested that glaucoma and Wilm’s tumor should not be confirmed at present, but should be followed up regularly.