| Co-Investigator(Kenkyū-buntansha) |
HOTTA Yoshihiro Hamamatsu University, School of Medicine, Professor, 医学部, 教授 (90173608)
MIYAKE Yozo Graduate School of Medicine, Nagoya University, Professor, 大学院・医学研究科, 教授 (30166136)
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| Budget Amount *help |
¥4,100,000 (Direct Cost: ¥4,100,000)
Fiscal Year 2001: ¥1,100,000 (Direct Cost: ¥1,100,000)
Fiscal Year 2000: ¥3,000,000 (Direct Cost: ¥3,000,000)
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| Research Abstract |
The phenotypes of hereditary eye diseases are heterogeneous, and it was difficult to diagnose some cases whose clinical features were atypical. Recent advances in molecular genetics enabled us to diagnose such cases, presenting new information about phenotypic variations of the diseases.
Fundus albipunctatus has been considered to be a stationary disorder with night blindness, with normal visual acuity, visual field and color perception. However, we have examined RDH5 gene, the causing gene of fundus albipunctatus, and revealed that many patients with fundus albipunctatus develop cone dystrophy with age resulting in progressive decline of visual functions. Furthermore, we have shown a child case with fundus albipunctatus accompanied with macular dystrophy and reduced uncorrectable visual acuity. These findings have changed the concept of the disease.
X-linked juvenile retinoschisis (XRS) is a vitreoretinal dystrophy that is characterized by a tangential splitting of the superficial layer
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s of the sensory retina and an abnormal negative configuration in electroretinogram. We examined the XLRS1 gene, the causing gene of XRS, and showed that some cases with XRS presented white punctata in the retina. Also, we revealed that some cases with macular degeneration associated with negative electroretinogram were affected by XRS. Moreover, we found that some cases with XRS did not show the negative configuration but a normal shape in electroretinogram.
Incomplete type of congenital stationary night blindness (CSNB) characterized by negative electroretinogram, normal fundi, and normal visual field was first reported from our university. We examined the CACNA1F gene, the recently identified causing gene of incomplete CSNB, and detected mutations in all of the cases. Furthermore, we found some atypical cases accompanied with retinal degeneration and visual field defects.
We also identified the genetic causes of other retinal or corneal diseases, and obtained many novel results about the genotypes and phenotypes of the diseases. Less
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