CAJ | 학술논문

难治的致盲性眼底疾病许多与基因变异密切相关。其中，部分由基因变异直接致病；部分由于基因变异增加了发病的风险。基因研究将会为难治的致盲性眼底疾病的预防和治疗带来革命性变化。新一代测序技术结合外显子组分析技术的广泛应用，将推动眼底病基因研究的飞速发展；针对常见眼底病开展大样本合作研究，推动眼底病基因研究成果在防盲治盲的临床转化应用，将是未来几年的发展趋势。加强眼底病基因研究，有望为防盲治盲作出更大贡献。
난치적치맹성안저질병허다여기인변이밀절상관。기중，부분유기인변이직접치병；부분유우기인변이증가료발병적풍험。기인연구장회위난치적치맹성안저질병적예방화치료대래혁명성변화。신일대측서기술결합외현자조분석기술적엄범응용，장추동안저병기인연구적비속발전；침대상견안저병개전대양본합작연구，추동안저병기인연구성과재방맹치맹적림상전화응용，장시미래궤년적발전추세。가강안저병기인연구，유망위방맹치맹작출경대공헌。
Most fundus diseases leading to irreversible blindness are associated with genetic variations. Some sequence changes directly cause retinal diseases while others lead toa higher susceptibility to environmental insults common in daily life. Studies of genes related to fundus diseases will lead to a revolutionary change in the prevention and treatment of irreversible blindness. Application of high throughput next-generation sequencing and exome capture techniques will greatly enhance our ability to elucidate genes responsible for fundus diseases. With such technical and analytical advances, we are likely to see continuing and accelerating progress in the genetic study of fundus diseases, particularly in those fields requiring collaborative study of common fundus diseases using large cohorts of samples. The translational clinical application of understanding about these newly identified genes responsible for fundus diseases is also increasing in promise. Thus, strengthening current genetic studies of fundus diseases in both of these areas will make a valuable contribution to the prevention and treatment of blindness in both the near and especially the distant future.