Different Phenotypes Represent Advancing Stages of ABCA4 -Associated Retinopathy: A Longitudinal Study of 212 Chinese Families From a Tertiary Center

作者：Yingwei Wang, Wenmin Sun, Jing Zhou, Xueqing Li, Yi Jiang, Shiqiang Li, Xiaoyun Jia, Xueshan Xiao, Jiamin Ouyang, Yueye Wang, Lin Zhou, Yuxi Long, Mengchu Liu, Yongyu Li, Yi Zhen, Panfeng Wang, Qingjiong Zhang · 发表于：Investigative Ophthalmology & Visual Science · 年份：2022 · DOI：10.1167/iovs.63.5.28 · 被引用次数：12 · 研究领域：Retinal Development and Disorders、Retinopathy of Prematurity Studies、Retinal and Macular Surgery

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 progression. Results: A systematic review of genetic and clinical data for 228 patients and follow-up data for 42 patients indicated specific features in patients with two ABCA4 variants. Of 185 patients with available fundus images, 107 (57.8%) showed focal lesions restricted to the central macula without flecks. Among these 107 patients, 30 patients (28.0%) initially presented with relatively preserved visual acuity and inconspicuous performance on routine fundus screening. A pigmentary change in the posterior pole was observed in 22 of 185 patients (11.9%), and this change mimicked retinitis pigmentosa in 10 cases (45.5%). Follow-up visits and sibling comparisons demonstrated disease progression from cone-rod dystrophy, Stargardt disease, to retinitis pigmentosa. An earlier age of onset was associated with a more rapid decrease in visual acuity (P = 0.03). Patients with two truncation variants had an earlier age of onset. Conclusion: Phenotypic variation in ABCA4-associated retinopathy may represent sequential changes in a single disease: early-stage Stargardt dise...