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目前在欧美国家,遗传性眼病的发病率明显上升,已成为致盲的主要原因。在美国,遗传性眼病占致盲原因的32%,6岁以下儿童为47.4%。因此眼科遗传学愈来愈受到重视。近几年,由于染色体分带技术的应用,使染色体的研究进展很快,指示了以往尚未发现的染色体缺陷。与此同时,遗传性代谢病的生化研究亦取得了令人鼓午的进展。约150种先天性代谢异常病中,二分之一有病理性眼部表现。如何认识这些疾病,不仅是为了病人,尤为重要的是,在发生遗传病有高度可能性的家庭,对其后代子孙应该作些什么?如何预防?因此,眼科医生必须通晓遗传性代谢病的知识要点。本文着重讨论遗传性代谢病的眼部表现、治疗及其预防。遗传性代谢异常病包括:(一)氨基酸病变;(二)粘多糖蓄积病;(三)粘脂蓄积病;
Currently in Europe and the United States, the incidence of hereditary eye disease increased significantly, has become the main cause of blindness. In the United States, hereditary eye disease accounts for 32% of the causes of blindness and 47.4% of children under 6 years of age. Therefore, ophthalmic genetics more and more attention. In recent years, due to the application of chromosome zoning technology, the rapid progress of chromosome research indicates the chromosomal defects that have not been discovered in the past. In the meantime, biochemical studies of hereditary metabolic diseases have also made encouraging progress. About 150 congenital metabolic disorders, one-half of the pathological ocular manifestations. How to recognize these diseases, not only for the patients, but especially importantly, what should be done to their offspring in families with a high degree of genetic disease and how to prevent them? Therefore, ophthalmologists must be familiar with the knowledge of hereditary metabolic diseases Point. This article focuses on the ocular manifestations, treatment and prevention of hereditary metabolic diseases. Hereditary metabolic disorders include: (a) amino acid lesions; (b) mucopolysaccharidosis; (c) viscous lipid accumulation disease;