Outline of Final Research Achievements |
The purpose of this study is to establish a global cohort of ABCA4-associated retinal disorders, a leading cause of blindness in the developed nations, utilizing an international database under global collaboration. Global consortium includes 13 institutes from 7 countries; National Tokyo Medical Center from Japan, 6 institutes from USA, one from UK, one from Germany, two from China, one from Korea. Based on the standardized clinical diagnostic criteria, 916 subjects have been registered in total; Japan (278), UK (328), USA (150), France (61), Germany (49), China (42), Korea (8). Statistically significant difference of allele frequency of prevalent variants was revealed between ethnicity, which promotes to develop the clinical therapeutic trials in each continent.
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