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qiang lin, Rui Lin, Kun-Chao Wu, Guang-Hui Jin, Ren-Juan Shen, Wei-Qin Liu, Zhen-Ji Chen, Kai Ming Zhang, Zi-Bing Jin; Screening of high myopia in non-human primates. Invest. Ophthalmol. Vis. Sci. 2019;60(9):5870. doi: https://doi.org/.
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© ARVO (1962-2015); The Authors (2016-present)
High myopia is the leading cause of visual morbidity. However, there are no reliable models that accurately recapitulate the disease traits of high myopia. We attempted to screen high myopia in macaque fascicularis population.
Ophthalmic examinations including refraction, axial length, fundography and optical coherence tomography(OCT) were measured with auto-refractor, IOL-master, fundus photography and OCT respectively. Individuals with SE <= -6.00, tigroid fundus and longer axis(>= 19mm) were define as high myopia.DNA were extracted from 20 nomal and 19 high myopia individuals’ blood and whole-genome sequencing were performed to screen case-specific mutations in known genes. Subsequent validation in 60 other individuals was taken to identify candidate mutation sites.Disease causing potential of selected mutations were predicted in database with their human homologies.
Overall, 322 NHPs were screened and 73 monkeys show high myopia making the morbidity up to 22.7%.Comparative genome analysis in 20 controls and 19 cases showed 38 case-group-specific mutations in 12 candidate genes, 3 out of 28 conservative mutations between human and macaque exhibited the most disease causing possibility in all predicted database in their human homologies which were never reported before.
The high morbidity of high myopia in monkey population mainly due to genetic influence making us an ideal model to study underlying genetic mechanisms.Although lacking family information, whole genome sequencing revealed 3 potential disease causing mutations which were not previously reported in their human homology studies hinted new pathogenic sites while dealing with human high myopia.
This abstract was presented at the 2019 ARVO Annual Meeting, held in Vancouver, Canada, April 28 - May 2, 2019.
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