1998 Fiscal Year Final Research Report Summary
Molecular Genetic Analysis of Retinitis Pigmentosa
| Project/Area Number |
09671782
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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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 | Hirosaki University (1998)
Tohoku University (1997) |
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Principal Investigator |
NAKAZAWA Mitsuru Hirosaki University Department of Ophthalmology Professor, 医学部, 教授 (80180272)
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| Co-Investigator(Kenkyū-buntansha) |
SAKURADA Tomoki Hirosaki University Department of Ophthalmology Assistant Professor, 医学部, 講師 (20215693)
MATSUHASHI Hideaki Hirosaki University Department of Ophthalmology Associate Professor, 医学部, 助教授 (50199832)
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| Project Period (FY) |
1997 – 1998
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| Keywords | retinitis pigmentosa / arrestin / Oguchi disease |
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| Research Abstract |
In order to investigate whether a mutation in the arrestin gene causes not only Oguchi disease which is one form of congenital stationary night blindness but also retinitis pigmentosa which is progressive retinal degeneration, we continued mutation screening for arrestin gene and further analyzed the relationship between genotype and phenotype. As a result, we found the same mutation in the arrestin gene (ll47delA) in 3 patients with autosomal recessive retinitis pigmentosa as had been found in patients with Oguchi disease. Of 3 patients, 2 patients showed typical pigmentary retinal degeneration in their fundi and another patient showed central retinitis pigmentosa associated with golden-yellow fundus reflex in the periphery. In electroretinograms, all 3 patients showed decreased a- and b-waves but not completely diminished in standard ERG and also they commonly showed decreased waves but still recordable responses in 30-Hz flicker ERG.In fluorescein angiograms, all 3 patients showed chorioretinal atrophy particularly remarkable along the vascular arcade, indicating that the area along the vascular arcade is the most susceptible portion of degeneration. However, because other 2 patients who showed similar fluorescein angiographic findings had no mutation in the arrestin gene, this finding is not specific for the mutation in the arrestin but rather it is considered that this area of degeneration is corresponded to the highest distribution of rod photoreceptors. Nevertheless, the present study showed that a mutation in the arrestin gene is related to one form of autosomal recessive retinitis pigmentosa for the first time.
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