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Molecular Biological Approach to Hereclitay Detinoclsotdal Disorders

Research Project

Project/Area Number04671061
Research Category

Grant-in-Aid for General Scientific Research (C)

Allocation TypeSingle-year Grants
Research Field Ophthalmology
Research InstitutionTohoku Univresity

Principal Investigator

SHIONO Takashi  Tohoku Univ.Dept.Ophthalmol, Associate Professor, 医学部, 助教授 (20133978)

Co-Investigator(Kenkyū-buntansha) TAMAI Makoto  Tohoku Univ.Dept.Ophthalmol, Prof., 医学部, 教授 (90004720)
Project Period (FY) 1992 – 1994
Project Status Completed(Fiscal Year 1994)
Budget Amount *help
¥2,100,000 (Direct Cost : ¥2,100,000)
Fiscal Year 1994 : ¥700,000 (Direct Cost : ¥700,000)
Fiscal Year 1993 : ¥700,000 (Direct Cost : ¥700,000)
Fiscal Year 1992 : ¥700,000 (Direct Cost : ¥700,000)
KeywordsRetinitis Pigmentosa / Rhodopsin Gene / Peripherin / RDS gene / Gyate ATrophy / OAT gene / Acetazolamicle / X-linked Ocrlan Albimism / アセタゾラミド / X染色体劣勢眼白子症 / Ornithine aminotransferase / オルニチン・アミノトランスフェラーゼ / ロドプシン / 黄斑浮腫
Research Abstract

We screened the DNAs from patients with retinitis pigmentosa by the methods of PCR and SSCP.Afer screening, we determined the sequences of the DNA when abnormal bands were observed by SSCP.So far, two families with the rhodopsin gene mutations (Pro347Leu, Thr17Met) and one family with the peripherin/RDS gene mutation (Asp244Lys) have been found by these methods. We also have observed clinical findings of the families that showed the definite association of genotypes and phenotypes.
Acetazolamide has been tried to treat patients with retinitis pigmentosa. The medicine has been useful for the patients with cystoid macular edema. We also have been trying hyperbarix treatment and prostaglandins to patients with retinitits pigmentosa.
OAT gene of patients with gyrate atrophy of the choroid and retina has been analyzed. The OAT gene mutations of the Japanese patients were specific, suggesting the relationship between the clinical findings and gene abnormalities.
Clinical findings of Japanese patients with X-linked ocular albinism were analyzed. The clinical findings of the Japanese patients were quite diferent from those of other racial patients, suggesting the importance of the clinical data on the races.

Report

(4results)
  • 1994 Annual Research Report   Final Research Report Summary
  • 1993 Annual Research Report
  • 1992 Annual Research Report

Research Products

(43results)

All Other

All Publications

  • [Publications] Shiono T.et al: "Clinical features of autosomal doninant retinitis pigmentos a with a point mutation in codon 347 of the rhodopsin gene" Jpn J Ophthalmol. 36. 69-76 (1992)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1994 Final Research Report Summary
  • [Publications] Fujiki K,et al: "Point mutations of rhociopsin gene found in Japanese families with ADRP" Jpn J Human Genet. 37. 125-132 (1992)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1994 Final Research Report Summary
  • [Publications] Kikawa E,et al: "A novel mutation (Asp 244 Lys)in the peiplein /KDS gene cousiy ADRP auociated with brlli-eye macnlopatly dtleceo ig non-radio sotopic SSCP." Genomics. 20. 137-139 (1994)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1994 Final Research Report Summary
  • [Publications] Mashima Y,et al: "Rapid and efficient molecular analysis of gyrate atgy ueing denaturing gradient gel electorploreis" Inuert Ophthalmol Vis Sci. 35. 1065-1070 (1994)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1994 Final Research Report Summary
  • [Publications] Nakazawa M,et al: "Ocular fimolings in patients with ADRP and Trausmersin nutction in isdon 244('Agp 244 Lys)of the peiphein/RPS gene." Arch Ophthalniol. 112. 1567-1573 (1994)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1994 Final Research Report Summary
  • [Publications] Shiono T,et al: "X-linked Ocular albinism in Japanese Pafients" Br J Ophthalmol. (in press).

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1994 Final Research Report Summary
  • [Publications] 塩野 貴: "脈結膜網膜疾患(眼科学大系)" 増田寛次郎他, (1994)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1994 Final Research Report Summary
  • [Publications] 塩野 貴: "眼科診療プラクティスシリーズ 16" 大庭紀雄(印刷中),

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1994 Final Research Report Summary
  • [Publications] Shiono, T., Shoji, A., Mutoh, T.and Tamai, M.: "Abnormal sclerocytes in nanophthalmos." Graefe's Arch Ophthalmol. 230. 348-351 (1992)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1994 Final Research Report Summary
  • [Publications] Shiono, T., Tsuchiya, M., Ishiguro, S.and Tamai, M.: "Macula halo syndrome without systemic abnormality." Am J Ophthalmol. 113. 462-464 (1992)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1994 Final Research Report Summary
  • [Publications] Shiono, T., Hotta, Y., Noro, M., Sakuma, T., Tamai, M., Hayakawa, M., Hashimoto, T., Fujiki, K., Kamai, A., Nakajima, A.: "Clinical features of autosomal dominant retinitis pigmentosa with a point mutation in codon 347 of the rhodopsin gene." Jpn J Ophthalmol. 36. 69-76 (1992)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1994 Final Research Report Summary
  • [Publications] Mashima Y,Murakami A,Weleber RG,Kennaway NG,Clarke L,Shiono T,and Inana G: "Nonsense-codon mutations of the ornithine aminotransferase gene with decreased level of mutant mRNA in gyrate atrophy." Am J Hum Genet. 51. 81-91 (1992)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1994 Final Research Report Summary
  • [Publications] Fujiki K,Hotta Y,Hayakawa M,Sakuma H,Shiono T,Noro M,Sakuma T,Tamai M,Hikiji K,Kawaguchi R,Hoshi A,NakajimaA,Kanai A: "Point mutatins of rhodopsin gene found in Japanese families with ADRP." Jpn J Human Genet. 37. 125-132 (1992)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1994 Final Research Report Summary
  • [Publications] Hayakawa, M., Matsumura, M., Ohba, N., Matsui, M., Fujiki, K., Kanai, A., Tamai, M., Shiono, T., Tokoro, T., Akazawa, Y., Kubota, N., Kawano, S., Yuzawa, M., Oguchi, Y., Akeo, K., Adachi, E., Takeda, N., Miyake, Y., Yagasaki, K., Wakabayashi, K., Ishizawa, N., Honda, Y., Sakaue, H., Uyama, M., Kishimoto, N., Koizumi, K., Ishibashi, T., Honda, T., Isashiki, Y., Unoki, K.: "A multicenter study of typical retinitis pigmentosa in Japan." Jpn.J.Ophthalmol.37. 156-164 (1993)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1994 Final Research Report Summary
  • [Publications] Kikawa E,Nakazawa N,Chida Y,Shiono T,Tamai M: "A novel mutation (Asp244Lys) in the peripherin/RDS gene causing autosomal dominant retinitis pigmentosa associated with bull's-eye maculopathy detected by non-radioisotopic SSCP" Genomics. 20. 137-139 (1994)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1994 Final Research Report Summary
  • [Publications] Mashima, Y., Shiono, T., Inana, G.: "Rapid and efficient molecular analysis of gyrate atrophy using denatureing gradient gel electrophoresis." Invest. Ophthalmol. Vis.Sci.35. 1065-70 (1994)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1994 Final Research Report Summary
  • [Publications] Shiono, T., Mutoh, T., Chida, Y., Tamai, M.: "Ocular albinism with unilateral sectorial pigmentation in the fundus." Br J Ophthalmol. 78. 413-421 (1994)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1994 Final Research Report Summary
  • [Publications] Inana, G., Hotta, Y., Mashima, Y., Akaki, Y., Chambers, C., Murakami, A., Weleber, R., Kennaway, N., Shiono, T.: "Molecular genetic basis of gyrate atrophy." Invest. Ophthalmol. Vis.Sci.(Suppl) 35. 1984- (1994)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1994 Final Research Report Summary
  • [Publications] Nakazawa, M., Kikawa, E., Kamio, K., Chida, Y., Shiono, T., Tamai, M.: "Ocular findings in patients with autosomal dominant retinitis pigmentosa and transversion mutation in codon 244 (Asp244Lys) of the peripherin/RDS gene." Arch Ophthalmol. 112. 1567-1573 (1994)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1994 Final Research Report Summary
  • [Publications] Shiono, T., Tsunoda, M., Chida, Y., Nakazawa, M., Tamai, M.: "X-linked ocular albinism in Japanese patients." Br J Ophthalmol. (in press.).

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1994 Final Research Report Summary
  • [Publications] Shiono T,et al: "Clinical featines of ADRP with a point mutatien in codor 347 of the rhodopsin gene" Jpn J Ophtholmol. 36. 69-76 (1992)

    • Related Report
      1994 Annual Research Report
  • [Publications] Fujiki K,et al: "Point mutation of rhodopsin gene found in Japanese fewrlies with ADRP" Jpn J Humdn Genet. 37. 125-132 (1992)

    • Related Report
      1994 Annual Research Report
  • [Publications] Kikawa E,et al: "A nonel mutation (Asp 244 Lys)in the peir pherin /RDS gene causing ADRP associated with palls-eye maculopathy delected by mn radio isotopic SSCP" Genomics. 20. 137-139 (1994)

    • Related Report
      1994 Annual Research Report
  • [Publications] Mashima Y,et al: "Rapid and efficient molecular analysis of gyrate ataphy using dcnaturing gradient gel electuphoresis" Invect Ophthalwol Vis Sci. 35. 1065-1070 (1994)

    • Related Report
      1994 Annual Research Report
  • [Publications] Nakazawa M,et al: "Ocular fencings in patient with ADRP and transnerain nutation in codor 244(Asp 244 Lys)of the peripherin/RDS gene" Arch Gphthalmol. 112. 1567-1573 (1992)

    • Related Report
      1994 Annual Research Report
  • [Publications] Shiono T,et al: "X-linked ocular albinism in Japanese patients" Br J Ophthel mol. (in press).

    • Related Report
      1994 Annual Research Report
  • [Publications] 塩野 貴: "脈絡膜網膜疾患(眼科学大系)" 増田寛次郎 他, (1994)

    • Related Report
      1994 Annual Research Report
  • [Publications] 塩野 貴: "眼科診療プラクティスシリーズ 16" 大庭紀雄(印刷中),

    • Related Report
      1994 Annual Research Report
  • [Publications] 塩野 貴: "Gyrate Atroplyの分子生物学" あたらしい眼科. 9. 565-571 (1992)

    • Related Report
      1993 Annual Research Report
  • [Publications] Shiono.T.et al: "Clinical featurs of autosonal dominant retinitis pigmentosa with a point matation in codon 347 of the rhodopsin gene" Jpn J Ophthalmol. 36. 69-76 (1992)

    • Related Report
      1993 Annual Research Report
  • [Publications] 塩野 貴 他: "網膜色素変性症に対するアセタゾラミドの効果:特に黄斑浮腫について" 臨床眼科. 47. 500-501 (1993)

    • Related Report
      1993 Annual Research Report
  • [Publications] Nakazawa,M.et al: "Analysis of the rhodopsin gene in patients with retinitis pigmentosa using polymerare chain reaction" Jpn J Ophthalmol. 35. 386-393 (1991)

    • Related Report
      1993 Annual Research Report
  • [Publications] Kikawa,E.et al: "A novel muteition (Asp 244 Lys) in the peripherin /RDS gene causing autosoml dominant retinitis pigmeutosa associated with bull's-eye maulopcfly detected by SSCP" Genomics. (in press).

    • Related Report
      1993 Annual Research Report
  • [Publications] 塩野 貴: "眼科Q&A" 六法出版社, (1992)

    • Related Report
      1993 Annual Research Report
  • [Publications] Shiono,T.: "Current Aspect in Ophthalmology" Elsvier Science Publishers B.V., 1900 (1992)

    • Related Report
      1993 Annual Research Report
  • [Publications] 塩野 貴: "Gyrata Atrophyの分子生物学" あたらしい眼科. 9. 565-571 (1992)

    • Related Report
      1992 Annual Research Report
  • [Publications] Shiono T,et al: "Vitreous retinal and subretinal hemorrhages associated with von Willebrand syndrome" Graefe's Arch Ophtalmol. 230. 496-497 (1992)

    • Related Report
      1992 Annual Research Report
  • [Publications] Nakazawa M,et al: "Analysis of the rhodopsin gene in patients with retinitis pigmentosd using polymerase chain reaction" Jpn J Ophthalmol. 35. 386-393 (1991)

    • Related Report
      1992 Annual Research Report
  • [Publications] Shiono T,et al: "Clinical features of autosomal dominant retinitis pigmentosa with a point mutation in codon 347 of the rhodopsin gene" Jpn J Ophthalmol. 36. 69-76 (1992)

    • Related Report
      1992 Annual Research Report
  • [Publications] Mashima Y,et al: "Nonsense codon mutations of the ornithine aminotrawferose gene with decreased leuel of mutant mRNA in gyrate atriogly" Am J Hum Genet. 51. 81-91 (1992)

    • Related Report
      1992 Annual Research Report
  • [Publications] 加藤 圭一,他: "網膜色素変性症に伴う類襄胞黄斑浮腫にAcetazolamideが奏効した一例" 眼科. 34. 1395-1398 (1992)

    • Related Report
      1992 Annual Research Report
  • [Publications] Shiono T,et al: "Molecular approdrches to the Study and Treatment of Mumdn diseares" Excerpta Medica, 447 (1992)

    • Related Report
      1992 Annual Research Report
  • [Publications] 塩野 貴: "眼疾患治療の現状と将来への展望" 笹気出版, 96 (1991)

    • Related Report
      1992 Annual Research Report

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Published : 1992-04-01   Modified : 2016-04-21  

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