An HK1 pathogenic variant associated with an atypical retinal dystrophy phenotype: a case report and insights from literature
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Xiao-Lai Zhou and Feng Wen. State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangdong Provincial Clinical Research Center for Ocular Diseases, Guangzhou 510060, Guangdong Province, China. zhouxiaolai@gzzoc.com; wenfeng208@foxmail.com

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Supported by the Key Research and Development Program of the Ministry of Science and Technology (No.2022YFF1202901); the National Natural Science Foundation of China (No.82171404); the Natural Science Foundation of Guangdong Province of China (No.2023A1515011529); the Science and Technology Planning Project of Guangzhou City (No.2023A03J0181); the Fundamental Research Funds for the Central Universities (No.22yklj04); the Research Funds of the State Key Laboratory of Ophthalmology (No.2024ZZ06).

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Yong-Yue Su, Kai-Rui Qiu, Feng Wen, et al. An HK1 pathogenic variant associated with an atypical retinal dystrophy phenotype: a case report and insights from literature. Int J Ophthalmol, 2026,(8):1647-1651

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Publication History
  • Received:November 09,2025
  • Revised:April 10,2026
  • Adopted:
  • Online: July 15,2026
  • Published: