Discovery of a cynomolgus monkey family with retinitis pigmentosa

Yasuhiro Ikeda, Koji M. Nishiguchi, Fuyuki Miya, Nobuhiro Shimozawa, Jun Funatsu, Shunji Nakatake, Kohta Fujiwara, Takashi Tachibana, Yusuke Murakami, Toshio Hisatomi, Shigeo Yoshida, Yasuhiro Yasutomi, Tatsuhiko Tsunoda, Toru Nakazawa, Tatsuro Ishibashi, Koh Hei Sonoda

研究成果: ジャーナルへの寄稿学術誌査読

18 被引用数 (Scopus)

抄録

PURPOSE. To accelerate the development of new therapies, an inherited retinal degeneration model in a nonhuman primate would be useful to confirm the efficacy in preclinical studies. In this study, we describe the discovery of retinitis pigmentosa in a cynomolgus monkey (Macaca fascicularis) pedigree. METHODS. First, screening with fundus photography was performed on 1443 monkeys at the Tsukuba Primate Research Center. Ophthalmic examinations, such as indirect ophthalmoscopy, ERGs using RETeval, and optic coherent tomography (OCT) measurement, were then performed to confirm diagnosis. RESULTS. Retinal degeneration with cystoid macular edema was observed in both eyes of one 14-year-old female monkey. In her examinations, the full-field ERGs were nonrecordable and the outer layer of the retina in the parafoveal area was not visible on OCT imaging. Moreover, less frequent pigmentary retinal anomalies also were observed in her 3-year-old nephew. His full-field ERGs were almost nonrecordable and the outer layer was not visible in the peripheral retina. His father was her cousin (the son of her mother’s older brother) and his mother was her younger half-sibling sister with a different father. CONCLUSIONS. The hereditary nature is highly probable (autosomal recessive inheritance suspected). However, whole-exome analysis performed identified no pathogenic mutations in these monkeys.

本文言語英語
ページ(範囲)826-830
ページ数5
ジャーナルInvestigative Ophthalmology and Visual Science
59
2
DOI
出版ステータス出版済み - 2月 2018

!!!All Science Journal Classification (ASJC) codes

  • 眼科学
  • 感覚系
  • 細胞および分子神経科学

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