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Invest Ophthalmol Vis Sci. 2018 Feb 1;59(2):826-830. doi: 10.1167/iovs.17-22958.

Discovery of a Cynomolgus Monkey Family With Retinitis Pigmentosa.

Author information

1
Department of Ophthalmology, Graduate School Medical Sciences, Kyushu University, Fukuoka, Japan.
2
Department of Ocular Pathology and Imaging Science, Graduate School Medical Sciences, Kyushu University, Fukuoka, Japan.
3
Department of Advanced Ophthalmic Medicine, Tohoku University Graduate School of Medicine, Sendai, Japan.
4
Department of Medical Science Mathematics, Medical Research Institute, Tokyo Medical and Dental University, Tokyo, Japan.
5
Tsukuba Primate Research Center, National Institutes of Biomedical Innovation, Health and Nutrition, Tsukuba, Japan.
6
Department of Ophthalmology, Tohoku University Graduate School of Medicine, Sendai, Japan.

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.

PMID:
29411010
DOI:
10.1167/iovs.17-22958
[Indexed for MEDLINE]

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