| Budget Amount *help |
¥3,900,000 (Direct Cost: ¥3,900,000)
Fiscal Year 2003: ¥1,700,000 (Direct Cost: ¥1,700,000)
Fiscal Year 2002: ¥2,200,000 (Direct Cost: ¥2,200,000)
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| Research Abstract |
The purpose of this study is to examine the causative genes of genetic retinal diseases, especially of cone (-rod) dystrophy, and to compare the genotype and phenotype in the patients. We analyzed CRX, RETGC1,peripherin/RDS, GUCA1A, HRG4, ABCA4,and RPGR genes in 38 families with cone (-rod) dystrophy, and found a CRX gene mutation in 2 families,3 RETGC1 gene mutations in 3 families, and a peripherin/RDS gene mutation in a family. The CRX gene mutation and 2 of the RETGC1 gene mutations had been reported in Caucasian population indicating that the codons are focuses for autosomal dominant cone (-rod) dystrophy internationally. We found a novel complex mutation, Ile9l5Thr+Gly9l7Arg, in the RETGC1 gene. In this screening the causative gene mutations were found in 4 out of 10 autosomal dominant families indicating that the causative mutation of cone (-rod) dystrophy can be determined at relatively high frequency in Japanese population. The same mutations in the same gene caused an overall similar clinical phenotype in different races, however, the severity differed among the patients indicating some environmental, or genetic factors other than the identified mutations effected the severity.
Besides cone (-rod) dystrophy, we analyzed the genotype-phenotype correlation in many cases with fundus albipunctatus. We found some cases with incomplete congenital stationary night blindness were associated with progressive retinal and optic atrophy. A case with enhanced s-cone syndrome was associated with subretinal neovascularization. We found a case with Leber congenital amaurosis caused by a de novo CRX gene mutation.
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