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1998 Fiscal Year Final Research Report Summary

Molecular Genetic Analysis of Retinitis Pigmentosa

Research Project

Project/Area Number 09671782
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Ophthalmology
Research InstitutionHirosaki University (1998)
Tohoku University (1997)

Principal Investigator

NAKAZAWA Mitsuru  Hirosaki University Department of Ophthalmology Professor, 医学部, 教授 (80180272)

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)
Project Period (FY) 1997 – 1998
Keywordsretinitis pigmentosa / arrestin / Oguchi disease
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.

  • Research Products

    (14 results)

All Other

All Publications (14 results)

  • [Publications] Nakazawa, M et al: "Arrestin gene mutations in autosomal recessive retinitis pigmentosa" Archives of Ophthalmology. 116. 498-501 (1998)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Wada, Y et al: "Ectopic transcription and possibility of RNA editing of the human arrestin gene" Japanese Journal of Ophthalmology. (印刷中) (1999)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] 中沢 満: "網膜色素変性 I" 眼科. 40. 1309-1313 (1998)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] 中沢 満: "網膜色素変性の遺伝子検査法" 臨床眼科. 52. 257-259 (1998)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] 中沢 満: "眼科遺伝子診療" 日本の眼科. 69. 1407-1410 (1998)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Nakazawa, M et al (分担): "Retinal Degenerative Diseases and Experimental Therapy" Hollyfield JG, Anderson RE, La Vail MM eds,(印刷中), 4 (1999)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Wada, Y et al (分担): "Retinal Degenerative Diseases and Experimental Therapy" Hollyfield JG, Anderson RE, La Vail MM eds (印刷中), 4 (1999)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Nakazawa M,et al: "Arrestin gene mutations in autosomal recessive retinitis pigmentosa." Arch Ophthalmol. 116. 498-501 (1998)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Wada Y,Nakazawa M,et al.: "Ectopic transcription and possibility of RNA editing of the human arrestin gene." Jpn J Ophthalmol. 43(in press). (1999)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Nakazawa M.: "Retinitis pigmentosa I." Ganka(Ophthalmology). 40. 1309-1313 (1998)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Nakazawa M.: "Gene analysis in retinitis pigmentosa." Rinsho Ganka(Jpn Soc Clin Ophthalmol). 52. 257-259 (1998)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Nakazawa M.: "Practical genetics in Ophthalmology." Nihon No Ganka(J Jpn OphthalmolAssoc). 69. 1407-1410 (1998)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Nakazawa M,et al.: "Retinal Degenerative Diseases and Experimantal Therapy." Hollyfield JG,Anderson RE,La Vail MM,eds.Plenum Corp. (in press). (1999)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Wada.Y,Nakazawa M,et al.: "Retinal Degenerative Diseases and Experimantal Therapy." Hollyfield JG,Anderson RE,La Vail MM,eds.Plenum Corp. (in press). (1999)

    • Description
      「研究成果報告書概要(欧文)」より

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Published: 1999-12-08  

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