| Budget Amount *help |
¥4,030,000 (Direct Cost: ¥3,100,000、Indirect Cost: ¥930,000)
Fiscal Year 2014: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
Fiscal Year 2013: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
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| Outline of Final Research Achievements |
We studied the clinical and molecular genetic characteristics of inherited macular diseases for treatment approaches. The cohort established till March of 2015 included 167 subjects from 143 families; occult macular dystrophy (64 families), cone (-rod) dystrophy (42), Stargardt disease (34), and Best disease (3). Genetic diagnosis was obtained in 29 families; 17 families with RP1L1, 3 with ABCA4, 2 with BEST1, 2 with GUCA1A, 2 with GUCY2D, 1 with ADAMTS18, 1 with PDE6C, and 1 with RPGR. In the two subsets with RP1L1-related retinal disease and ABCA4-related retinal disease, the genotype-phenotype association was studied. There was no significant association between disease severity and types of mutations in RP1L1-related retinal disease. A significant genotype-phenotype association was revealed in ABCA4-related retinal disease in collaboration with a British team, suggesting the treatment approaches are recommended for such patients.
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