Inherited retinal degeneration in the cynomolgus monkey (Macaca fascicularis)

Abstract

Purpose : In the efficacy studies of the promising therapeutic approaches, such as gene therapy and regenerative medicine, for the inherited retinal degeneration, rodent disease models are commonly used. With the aim of accelerating the development of the new therapy, the inherited retinal degeneration model in non-human primate is useful to confirm the efficacy in the preclinical studies. In this study, we described the inherited retinal degeneration in a cynomolgus monkey (Macaca fascicularis) pedigree.

Methods : First, the screening with fundus photography was performed on over 1500 monkeys in the pedigree in Tsukuba Primate Research Center. The ophthalmic examinations such as indirect ophthalmoscopy, electroretinography using RETeval^®, and optic coherent tomography (OCT) measurement, were performed in the next step to confirm diagnosis.

Results : Retinal degeneration with cystoid macular edema was observed in the both eyes of a 14-year-old female monkey. The full-field electroretinograms (ERGs) were non-recordable and the outer layer of the retinal was disappeared in the parafoveal area on the OCT imaging. Less frequent pigmentary retinal anomalies were also observed in her 3-year-old nephew. 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. The full-field ERGs were also non-recordable and the outer layer was disappeared in the peripheral retina.

Conclusions : The hereditary nature of the retinal degeneration is highly probable. We will perform the genetic testing of this inherited retinal degeneration with next-generation sequencing technology.

This is an abstract that was submitted for the 2017 ARVO Annual Meeting, held in Baltimore, MD, May 7-11, 2017.