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Clinical and genetic characterization of a large cohort of Chinese patients with Bietti crystalline retinopathy.

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie - 1 Jan 2024

Li Huajin, Wei Xing, Wu Shijing, Zhu Tian, Sun Zixi, Li Hui, Han Xiaoxu, Zou Xuan, Yao Fengxia, Sui Ruifang

Abstract excerpt

PURPOSE: To investigate the clinical and genetic characteristics for a large cohort of Chinese patients with Bietti crystalline retinopathy (BCR). METHODS: A total of 208 Chinese BCR patients from 175 families were recruited. Comprehensive clinical evaluations and genetic analysis were performed. Genotype-phenotype correlations were evaluated through statistical analysis. RESULTS: The patients' median age was 37...

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PMID: 37584790
DOI: 10.1007/s00417-023-06178-y

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