1998 Fiscal Year Final Research Report Summary
Molecular Genetic Studies of Important Eye Diseases
| Project/Area Number |
09470383
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| Research Category |
Grant-in-Aid for Scientific Research (B)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Ophthalmology
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| Research Institution | Kagoshima University |
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Principal Investigator |
OHBA Norio Faculty of Medicine, Kagoshima University, Professor, 医学部, 教授 (50010070)
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| Co-Investigator(Kenkyū-buntansha) |
ISASHIKI Yasushi Faculty of Medicine, Kagoshima University, Associate Professor, 医学部, 助教授 (70168160)
UEHARA Fumiyuki Faculty of Medicine, Kagoshima University, Associate Professor, 医学部, 助教授 (30168653)
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| Project Period (FY) |
1997 – 1998
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| Keywords | Norric disease / Sorsby's dystrophy / Age-related maculopathy / Congenital nystagmus / PAX6 |
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| Research Abstract |
This study dealt with molecular genetic analysis of important eye diseases. The main results are as follows.
1. Norrie disease
Norrie disease a rare X-linked disease that presents severe vitreoretinal dysplasia in infants. We had found previously two families in Kagoshima prefecture and during this study two additional families in Tokyo and Chiba. These four families were examined for mutations in the Norrie disease gene. As a result, two Kagoshima families had a mutation in the initiation codon of the exon 2, one family in Tokyo missense mutation in the exon 3, and one family in Chiba a gross duplication of the gene.
2. Sorsby's fundus dystrophy (SFD SFD is a rare autosomal dominant retinal disease characterized by adult onset and progressive fundus dystrophy resembling age-related macular degeneration. We identified two families with SFD in Kagoshima, the first in Japan and Asia. Our two families were found to have a single nucleotide insertion in the intron4/exon 5 junction that predicted to truncate SFD protein. This type of mutation has not been reported in Caucasian SFD patients, who all showed missense mutations in the C-terminus of the coding region of the SED gene. It was also of interest that our Japanese patients were much more similar to age-related macular degeneration in its disease onset and extension of the disease.
3. Congenital nystagmus
We identified a four-generation family featured by congenital nystagmus, corneal anomalies and foveal hypoplasia. The disease-associated gene was localized in chromosome 21, and a search for the causative gene has revealed a missense mutation in the paired domain of PAX6. It was remarkable that our patients had no defect in the iris or uveal tissue, although the majority of patients with PAX mutations present aniridia.
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