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Discovery of a Cynomolgus Monkey Family With Retinitis Pigmentosa.

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.

journal_name

Invest Ophthalmol Vis Sci

journal_title

Investigative ophthalmology & visual science

authors

Ikeda Y,Nishiguchi KM,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 KH

doi

10.1167/iovs.17-22958

subject

Has Abstract

pub_date

2018-02-01 00:00:00

pages

826-830

issue

2

eissn

0146-0404

issn

1552-5783

pii

2672463

journal_volume

59

pub_type

杂志文章

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