Genetic study for diseases of insufficient development of retinal vessels

2009 Fiscal Year Final Research Report

• Project/Area Number: 19592047
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Single-year Grants
• Section: 一般
• Research Field: Ophthalmology
• Research Institution: Fukuoka University
• Principal Investigator: KONDO Hiroyuki Fukuoka University, 医学部, 准教授 (40268991)
• Co-Investigator(Kenkyū-buntansha): HAYASHI Kenshi 九州大学, 生体防御医学研究所, 学術研究員 (00019671)
• Project Period (FY): 2007 – 2009
• Keywords: 家族性滲出性硝子体網膜症 / 未熟児網膜症 / ノリエ病 / WNTシグナル / 網膜剥離 / 新生血管 / 遺伝子

Research Abstract

Diseases of insufficient development of retinal vessels are either congenital or acquired diseases that affect vision of infants and children secondary to retinal detachment. The diseases, exemplified by familial exudative vitreoretinopathy and retinopathy of prematurity, are clinically and genetically heterogeneous, and the underlying genetic factors remain to be elucidated. We evaluated the genetic factors by analyzing the patients or using experimental methods to develop a way for future prevention and the treatment.

Research Products

• [Journal Article] Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopaty. (2010)
  • Author(s): Poulter JA, Ali M, Gilmour DF, Rice A, Kondo H, et al.
  • Journal Title: Am J Hum Genet 86 Pages: 248-252
  • Peer Reviewed
• [Journal Article] Lens-sparing vitrectomy effective for reattachment of newly developed falciform retinal detachment in a patient with Norrie disease. (2009)
  • Author(s): Shima C, Kusaka S, Kondo H, Hasebe H, Fujikado T, Tano Y
  • Journal Title: Arch Ophthalmol 127 Pages: 579-580
  • Peer Reviewed
• [Journal Article] Novel mutation in PAX3 gene in Waardenburg syndrome accompanied by unilateral macular degeneration. (2009)
  • Author(s): Kozawa M, Kondo H, Tahira T, Hayashi K, Uchio E
  • Journal Title: Eye 23 Pages: 1619-1621
  • Peer Reviewed
• [Journal Article] Late recurrence of retinal detachment following successful vitreous surgery for stages 4B and 5 retinopathy of prematurity. (2009)
  • Author(s): Kondo H, Arita N, Ohsato M, Hayashi H, Uchio E, Oshima K
  • Journal Title: Am J Ophthalmol 147 Pages: 661-666
  • Peer Reviewed
• [Journal Article] Moderate reduction of Norrin signaling activity associated with the causative missense mutations identified in patients with familial exudative vitreoretinopathy. (2008)
  • Author(s): Qin M, Kondo H, Tahira T, Hayashi K
  • Journal Title: Hum Genet 122 Pages: 615-623
  • Peer Reviewed
• [Journal Article] Severe Form of Familial Exudative Vitreoretinopathy Caused by Homozygous R417Q Mutation in Frizzled-4 Gene. (2007)
  • Author(s): Kondo H, Qin M, Tahira T, Uchio E, Hayashi K
  • Journal Title: Ophthalmic Genet 28 Pages: 220-223
  • Peer Reviewed
• [Presentation] わが国の常染色体優性家族性滲出性硝子体網膜症の遺伝子診断に基づいた浸透率. (2009)
  • Author(s): 近藤寛之、林健志, 他
  • Organizer: 第63回日本臨床眼科学会
  • Place of Presentation: 福岡
  • Year and Date: 2009-10-10
• [Presentation] 小児眼底疾患の診断と治療「硝子体変性症」. (2009)
  • Author(s): 近藤寛之
  • Organizer: 第113回日本眼科学会総会
  • Place of Presentation: 東京
  • Year and Date: 2009-04-17
• [Presentation] Genetic heterogeneityin familial exudative vitreoretinopathywith reduced bone mineral density (2008)
  • Author(s): Kondo H, Nakamori G, Qin M, Tahira T, Uchio E, Hayashi K
  • Organizer: ARVO Annual Meeting
  • Place of Presentation: Fort Lauderdale
  • Year and Date: 2008-04-29
• [Presentation] 基調講演v.遺伝的背景から見た網膜疾患. (2007)
  • Author(s): 近藤寛之
  • Organizer: 第7 7回九州眼科学会
  • Place of Presentation: 宮崎
  • Year and Date: 2007-05-11
• [Presentation] 家族性滲出性硝子体網膜症の遺伝子変異とwntシグナル古典的経路の転写活性の変化. (2007)
  • Author(s): 近藤寛之, 秦明輝, 田平知子, 内尾英一, 林健志
  • Organizer: 第111回日本眼科学会総会
  • Place of Presentation: 大阪
  • Year and Date: 2007-04-19