Most fundus diseases leading to irreversible blindness are associated with genetic variations. Some sequence changes directly cause retinal diseases while others lead to a 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.

Citation： Qingjiong Zhang. Studies on genes related to fundus diseases: current status and future prospects. Chinese Journal of Ocular Fundus Diseases, 2011, 27(5): 405-408. doi: Copy