| Budget Amount *help |
¥3,500,000 (Direct Cost: ¥3,500,000)
Fiscal Year 2006: ¥1,300,000 (Direct Cost: ¥1,300,000)
Fiscal Year 2005: ¥2,200,000 (Direct Cost: ¥2,200,000)
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| Research Abstract |
It is well known that progressive inherited retinal degenerations have been a difficult disease to treat for a long time because it is an inherited and progressive disease, and an effective treatment is not available so far. For a long time, inherited retinal diseases were considered to result from a mutation of a gene, which plays an important role in the retina.
In our present study, we determined the type and prevalence of mutations in 7 genes (RPE65, CRX, LRAT, GUCY2D, CRB1, AIPL1 and RDH12), in Japanese patients with Leber's congenital amaurosis (LCA), and to correlate the genotype to the phenotype. The coding sequence and the adjacent flanking intron sequences of all exons of the 7 genes were directly sequenced in 72 unrelated patients with LCA. The clinical features were characterized by visual acuity, slit-lamp biomicroscopy, electroretinography, fluorescein angiography, and kinetic visual field testing. 6 causative mutations were found in 3 of the 72 patients with LCA (4%). The
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compound heterozygous Arg515Trp and Arg124X in the RPE65 gene, the Leu154Pro and 733-735delGAG mutations in the AIPL1 gene, and the Lys192X and Gln161Trp mutations in the RDH12 gene cosegregated with the phenotype in Japanese patients with LCA. The heterozygous Arg515Trp mutation in the RPE65 gene was found in three unrelated patients with LCA, however, sequencing of the entire gene did not reveal a 2nd mutant allele. The prevalence of the causative mutations in the 7 genes were : RPE65, 1.4%; CRX, 0%; LRAT, 0%; GUCY2D, 0%; CRBI, 0%; AIPL1,1.4%) and RDH12,1.4%. Among these mutations-the Leu154Pro and 733-735de1GAG mutations in the AIPL1 gene, and the Lys192X and Gln161Trp mutations in the RDH12 gene were novel mutations. Although inherited retinal degeneration showed genetic heterogeneity, patients with X-linked juvenile retinoschisis, fundus albipunctatus and choroideremia have mutations in the RS1, RDH5, and CHM genes respectively. These findings suggested that genetic analyses played an important role for diagnosis for some retinal degenerations. We investigate the mental state, and the correlation between the emotional distress and visual functions of patients with retinitis pigmentosa(RP).
The mental state of patients with RP was evaluated using the Profiles of Mood States(POMS). 67 patients with RP were included in this study. Our study suggested that long term observations by ophthalmologist might made patients accept the disease, and lead to normal mental satae, in spite of their poor visual functions. The period of having retinitis pigmentosa was the most important factor of the mental state of patients with RP rather than the results of ophthalmologic examinations. Less
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