June 2023
Volume 64, Issue 8
Open Access
ARVO Annual Meeting Abstract  |   June 2023
Clinical and molecular features of a Chinese cohort with syndromic and nonsyndromic retinal dystrophies related to the CEP290 gene
Author Affiliations & Notes
  • Ruifang Sui
    Ophthalmology, Peking Union Medical College Hospital, Dongcheng-qu, Beijing, China
  • Tian Zhu
    Ophthalmology, Peking Union Medical College Hospital, Dongcheng-qu, Beijing, China
  • Yue Shen
    National Research Institute for Family Planning, Beijing, China
  • Xing Wei
    Ophthalmology, Peking Union Medical College Hospital, Dongcheng-qu, Beijing, China
  • Xuan Zou
    Ophthalmology, Peking Union Medical College Hospital, Dongcheng-qu, Beijing, China
  • Zongfu Cao
    National Research Institute for Family Planning, Beijing, China
  • Minna Luo
    National Research Institute for Family Planning, Beijing, China
  • Fangtian Dong
    Ophthalmology, Peking Union Medical College Hospital, Dongcheng-qu, Beijing, China
  • Footnotes
    Commercial Relationships   Ruifang Sui Belite Bio, Code C (Consultant/Contractor), Frontera, Code C (Consultant/Contractor); Tian Zhu None; Yue Shen None; Xing Wei None; Xuan Zou None; Zongfu Cao None; Minna Luo None; Fangtian Dong Frontera, Code C (Consultant/Contractor)
  • Footnotes
    Support  CIFMS 2021-I2M-1-003; the Beijing Natural Science Foundation 7202159; National Nature Science Foundation of China (81873687); 2016YFC1000307; 2005DKA32408 and Non-profit Central Research Institute Fund of National Research Institute for Family Planning (2020GJZ05).
Investigative Ophthalmology & Visual Science June 2023, Vol.64, 1524. doi:
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      Ruifang Sui, Tian Zhu, Yue Shen, Xing Wei, Xuan Zou, Zongfu Cao, Minna Luo, Fangtian Dong; Clinical and molecular features of a Chinese cohort with syndromic and nonsyndromic retinal dystrophies related to the CEP290 gene. Invest. Ophthalmol. Vis. Sci. 2023;64(8):1524.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose : To reveal the clinical and genetic features of 54 Chinese pedigrees with syndromic or nonsyndromic retinal dystrophies related to CEP290 and to explore the genotype-phenotype correlation.

Methods : Patients diagnosed with nonsyndromic inherited retinal dystrophy (IRD) or syndromic ciliopathy (SCP) were enrolled. We identified 61 patients from 54 families carrying biallelic pathogenic CEP290 variants using next-generation sequencing, Sanger sequencing, and co-segregation validation. Genotype-phenotype correlation was evaluated.

Results : This study included 37 IRD patients from 32 families and 24 patients with SCP from 22 pedigrees. Four retinal dystrophy phenotypes were confirmed: Leber congenital amaurosis (LCA, 46/61), early-onset severe retinal dystrophy (EOSRD, 4/61), retinitis pigmentosa (RP, 10/61), and cone-rod dystrophy (CORD, 1/61). The SCP phenotypes included Joubert syndrome (JS) (23/24) and Bardet–Biedl syndrome (BBS) (1/24). We detected 73 different CEP290 variants, of which 33 (45.2%) were not previously reported. Two novel copy number variations (CNVs) and one novel pathogenic synonymous change were identified. The most recurrent alterations in the IRD and SCP were p.Q123* (6/64, 9.4%) and p.I556Ffs*17 (10/44, 22.7%), respectively. IRD patients carried more stop-gain alleles (25/64, 39.1%), whereas SCP patients carried more frameshift alleles (23/44, 52.3%).

Conclusions : LCA was the most common retinal dystrophy phenotype, and JS was the most prevalent syndrome in CEP290 patients; RP/CORD and BBS may be present in early adulthood. The hot spot variants and distribution of genotypes were distinct between IRD and SCP. Our study expands the CEP290 variant spectrum and enhances the current knowledge of CEP290 heterogeneity.

This abstract was presented at the 2023 ARVO Annual Meeting, held in New Orleans, LA, April 23-27, 2023.

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