Original ArticleGenetic and Clinical Findings in a Large Cohort of Chinese Patients with Suspected Retinitis Pigmentosa
Section snippets
Study Subjects and Ethics Statement
The current study was approved by the Ethics Committee of the Eye and ENT Hospital of Fudan University and conformed to the tenets of the Declaration of Helsinki. Written informed consent was obtained from all participants or their guardians. A total of 1243 patients and their available family members (total participants: 2701) who visited the Department of Ophthalmology and Visual Sciences at the Eye and ENT Hospital of Fudan University, China, between January 2016 and August 2018, and who
Cohort Characteristics
A total of 1243 patients (611 female, 632 male) with clinically suspected IRD were recruited, of whom most are unrelated probands (869/1243). The mean patient age was 39.8±17.8 years (range, 0.83–87; median, 40), and participants came from all over China. The age of onset was known in 968 patients, and they were divided into 3 subgroups (Table 1); patients with positive variants in more than 1 gene were not included in the 3 groups.
Diagnostic Yield and Genetic Findings
Overall, 72.08% (896/1243) of patients received a confirmed
Discussion
Since the launch of the Precision Medicine (PM) Initiative in early 2015, PM has already made important strides in patient care, including the prevention, diagnosis, and treatment of diseases.18, 19 Genetic analysis plays a vital role in facilitating this, although it is not the only path to PM.20 In this study, we performed genetic analysis in 2701 subjects, making it the largest Asian RP cohort to our knowledge.21, 22, 23, 24, 25 Moreover, the patients came from all over China and have a
Acknowledgments
The authors thank all of the participants in this study for their collaboration, the technical staff at Eye and ENT Hospital of Fudan University for assistance, and Beijing Genomics Institute Shenzhen for technical support. The data that support the findings of this study have been deposited in the CNSA (https://db.cngb.org/cnsa/) of CNGBdb with accession number CNP0000453.
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2023, GeneCitation Excerpt :About half of the genetically solved cases were attributed to variants in 3 genes: USH2A, CYP4V2 and RPGR. And the most common of the known pathogenic genes of RP detected in this present work was USH2A, which was consistent with previous reports in Chinese (Huang et al., 2017; Gao et al., 2019; Dan et al., 2020). However, EYS was the most frequently detected gene in Japanese RP patients (Oishi et al., 2014) and FAM161A had the highest mutation frequency in the Israeli-Jewish population (Beryozkin et al., 2020).
Supplemental material available at www.aaojournal.org.
Financial Disclosure(s): The author(s) have no proprietary or commercial interest in any materials discussed in this article.
Supported by the National Natural Science Foundation of China (Grants NSFC81770944, 81770925, 81790641, the Non-profit Central Research Institute Fund of Chinese Academy of Medical Sciences 2018PT32019). Natural Science Foundation of Guangdong Province (NO.2015A030313472), Shenzhen Engineering Laboratory for Birth Defects Screening, DRC-SZ [2016]750, Shenzhen Municipal Government of China JCYJ20180703093402288, a GRF grant from Hong Kong government Project No. [CityU 11256116] and a SRG grant from City University of Hong Kong Project No.[7005058].
HUMAN SUBJECTS: Human subjects were included in this study. The human ethics committees at the Eye and ENT Hospital of Fudan University approved the study. All research adhered to the tenets of the Declaration of Helsinki. All participants provided informed consent.
No animal subjects were used in this study.
Author Contributions:
Conception and design: Wu, Xu
Data collection: Gao, Li, Chen, Hu, Zhang, Qi, Xu, Wang, Chang, Zhang, Liu, Wang, Xu, Wu
Analysis and interpretation: Gao, Li, Chen, Hu, Zhang, Qi, Xu, Wang, Li, Chen, Wu
Obtained funding: Wu, Xu, Chen
Overall responsibility: Gao, Chen
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F.-.J.G., J.-K.L., H.C., and J-H.W. contributed equally to this work.