施永豐2006-07-262018-07-122006-07-262018-07-122004http://ntur.lib.ntu.edu.tw//handle/246246/26735台灣現在的學童近視比率，在全世界僅次於新加坡，稱為「近視王國」也不 為過。在近十年來的研究一直認為近視是由近距離長時間工作和不正確的過度使 用眼睛，所造成睫狀肌不能放鬆和眼球增長的一種眼病變。但是這些環境因素實 在不能完全解釋華人的高盛行率近視，由其在一些地區如台灣、香港、新加坡等 地華人移民所構築的地區。這些地區的高度近視也是相當可觀。 高度近視併發症的嚴重均可導致失明，如：視網膜剝離、黃斑部變性、青光 眼、白內障等。以往高度近視被認為和遺傳有相大的關係，在白人和華人的流行 病學研究當中都證明了這點。在基因體的研究當中也認為和染色體12q、18p 有 關。此外所謂nanophthalmos 和病理性近視的病理表現是完全相反，這個疾病也 可以提供我們研究病理性近視的染色體研究基礎，而nanophthalmos 和染色體11 有相當的關連。由於台灣高度近視的病患也相當多，我們認為如果可從高度近視 的基因體研究切入來探討近視的遺傳可能性，可能是一個相當有利的角度，目前 全世界對這方面的研究也在激烈的競爭著，而近視是我們的國病之一，我們更有 義務進行這個研究。 我們希望能從數個可能基因的單核苷酸多型性切入，以病例對照的方式來研 究這些可能基因的是否在高度近視和正常人之間有差異。如果時間和經費許可， 我們計劃以全基因體分析、連鎖分析、或連鎖不平衡分析來找出其他可能的近視 有關基因。我們有下列三大目的：一是找出近視產生的可能遺傳因素，二如果知 道產生近視的可能基因之後，我們期望能利用藥物或方法來抑制已產生近視的進 行，三是找出近視併發症的危險因子及預防方法。近視在台灣的嚴重性就如同肝 炎一樣，所以更需要更多人的投入研究，才能解決這方面的問題，我們希望我們 的研究能解決台灣最嚴重的視力問題。Myopia is common in the Taiwan, and its cost to society is high. A nationwide survey which is performed in 2000 to determine the prevalence and severity of myopia among schoolchildren in Taiwan and to compare these findings with the results of the last survey performed in 1995 showed that the myopia rate increased from 20% at 7 years, to 61% at 12 years, and 81% at 15 years. A myopic rate of 84% is found for schoolchildren aged 16 years through 18 years. The mean refractive index reached myopic status at the age of 8, and increased to -4.12 D in girls and -3.15 D in boys at the age of 18 years. The prevalence of high myopia (> -6.0 D) at the age of 18 years is 24% in girls and 18% in boys. The increase in axial length corresponded with the progression of myopia. The prevalence and severity of myopia in schoolchildren in Taiwan in 2000 increased compared to 1995, with the most severe increases occurring in younger age groups. Pathologic myopia, which is a well-defined disease with severely increased axial length and equatorial diameter, is presumed to be inherited with a Mendelian rule. In Taiwan, the incidence of myopia, even high myopia, is extremely high. The socioeconomic cost of high incidence of myopia is a very serious problem in Taiwan. It is hard to explain why only the environmental factors induce the high incidence rate of myopia in this region. There must be existed some genetic factors in the development of myopia in this region. If we find the possible genes in myopia, we will be able to find the possible environmental stimuli which can influence the expression of the genetic components. As aforementioned, the Mendelian transmission of pathologic myopia in Chinese is confirmed by genetic epidemiological study. Therefore, we are very interested in the possible genetic factors, chromosome, in the role of development of pathologic myopia. Through the discovery of possible genetic components of pathologic myopia, we can further define these genes in the general myopia as the role of GLCA1 in juvenile glaucoma. Linkage disequilibrium (LD) analysis, which effectively incorporates the effects of many past generations of recombination, has often been instrumental in the final phases of gene localization. These successes have fueled hopes that similar approaches will be effective in localizing genes underlying susceptibility to common, complex diseases. In present study, we approach the myopia gene in various chromosomes through the modern technology. First, we would like to screen SNPs in several possible candidate genes in age-matched patients with pathological myopia and control group through a case control study for chromosome 11, 12, and 18. DNA sequencing of these genes will be performed to find out the possible polymorphisms/mutations in the family with well-defined pedigrees. Finally, we will use the model of linkage analysis and genome wide scanning in certain families with pathological myopia.application/pdf158231 bytesapplication/pdfzh-TW國立臺灣大學醫學院眼科journal articlehttp://ntur.lib.ntu.edu.tw/bitstream/246246/26735/1/922314B002154.pdf