Article
Different Phenotypes Represent Advancing Stages of ABCA4-Associated Retinopathy: A Longitudinal Study of 212 Chinese Families From a Tertiary Center.
Investigative ophthalmology & visual science - 2 May 2022
Wang Yingwei, Sun Wenmin, Zhou Jing, Li Xueqing, Jiang Yi, Li Shiqiang, Jia Xiaoyun, Xiao Xueshan, Ouyang Jiamin, Wang Yueye, Zhou Lin, Long Yuxi, Liu Mengchu, Li Yongyu, Yi Zhen, Wang Panfeng, Zhang Qingjiong
Abstract excerpt
Purpose: To evaluate the nature and association of different phenotypes associated with ABCA4 mutations in Chinese. Methods: All patients were recruited from our pediatric and genetic eye clinic. Detailed ocular phenotypes were characterized. The disease course was evaluated by long-term follow-up observation, with a focus on fundus changes. Cox regression was used to identify the factors associated with disease...
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