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Discovery of a Cynomolgus Monkey Family With Retinitis Pigmentosa
- Source :
- Investigative Opthalmology & Visual Science. 59:826
- Publication Year :
- 2018
- Publisher :
- Association for Research in Vision and Ophthalmology (ARVO), 2018.
-
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.
- Subjects :
- Male
0301 basic medicine
Retinal degeneration
medicine.medical_specialty
genetic structures
Polymerase Chain Reaction
Macular Edema
Retina
Ophthalmoscopy
03 medical and health sciences
biology.animal
Ophthalmology
Exome Sequencing
Retinitis pigmentosa
Electroretinography
medicine
Animals
Primate
Fluorescein Angiography
biology
medicine.diagnostic_test
business.industry
Fundus photography
medicine.disease
Fluorescein angiography
eye diseases
Pedigree
Disease Models, Animal
Macaca fascicularis
030104 developmental biology
medicine.anatomical_structure
Female
sense organs
business
Retinitis Pigmentosa
Tomography, Optical Coherence
Subjects
Details
- ISSN :
- 15525783
- Volume :
- 59
- Database :
- OpenAIRE
- Journal :
- Investigative Opthalmology & Visual Science
- Accession number :
- edsair.doi.dedup.....06a1a90c69a2134c13952111ac7a1eb6