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

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7 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)826-830
Number of pages5
JournalInvestigative Ophthalmology and Visual Science
Volume59
Issue number2
DOIs
Publication statusPublished - Feb 2018

All Science Journal Classification (ASJC) codes

  • Ophthalmology
  • Sensory Systems
  • Cellular and Molecular Neuroscience

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    Ikeda, Y., Nishiguchi, K. M., Miya, F., Shimozawa, N., Funatsu, J., Nakatake, S., Fujiwara, K., Tachibana, T., Murakami, Y., Hisatomi, T., Yoshida, S., Yasutomi, Y., Tsunoda, T., Nakazawa, T., Ishibashi, T., & Sonoda, K. H. (2018). Discovery of a cynomolgus monkey family with retinitis pigmentosa. Investigative Ophthalmology and Visual Science, 59(2), 826-830. https://doi.org/10.1167/iovs.17-22958