Different Phenotypes Represent Advancing Stages of ABCA4-Associated Retinopathy: A Longitudinal Study of 212 Chinese Families From a Tertiary Center.
Different Phenotypes Represent Advancing Stages of ABCA4-Associated Retinopathy: A Longitudinal Study of 212 Chinese Families From a Tertiary Center.
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DOI：
10.1167/iovs.63.5.28
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发表时间：
2022-05-02
影响因子：
4.4
通讯作者：
中科院分区：
文献类型：
--
作者：
目的：探讨中国人ABCA4突变相关的不同表型的性质及其相关性。所有患者均来自我们的儿科和遗传眼科诊所。详细描述了眼部表型。通过长期随访观察评价病程，重点观察眼底变化。采用Cox回归分析确定与疾病进展相关的因素。对228例患者的遗传和临床数据以及42例患者的随访数据的系统回顾表明，两种ABCA4变体患者具有特定的特征。在185例眼底图像中，107例（57.8%）显示局灶性病变局限于中央黄斑，无斑点。在这107例患者中，30例（28.0%）患者最初表现为视力相对保留，常规眼底筛查表现不明显。185例患者中有22例（11.9%）观察到后极的色素改变，10例（45.5%）患者的这种改变与视网膜色素变性相似。随访和兄弟姐妹比较表明疾病进展从锥杆营养不良，Stargardt病到视网膜色素变性。发病年龄越早，视力下降越快（P = 0.03）。两种截断变异体的患者发病年龄较早。abca4相关视网膜病变的表型变异可能代表单一疾病的顺序变化：早期Stargardt病可能类似于锥杆营养不良，而晚期弥漫性色素沉着可能类似于视网膜色素变性。认识到眼底变化的自然进展，特别是那些由广角眼底自身荧光显示的变化，对诊断和治疗决策是有价值的。
To evaluate the nature and association of different phenotypes associated with ABCA4 mutations in Chinese. 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. 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. Phenotypic variation in ABCA4-associated retinopathy may represent sequential changes in a single disease: early-stage Stargardt disease may resemble cone-rod dystrophy, whereas the presence of diffuse pigmentation in the late stage may mimic retinitis pigmentosa. Recognizing the natural progression of fundus changes, especially those visualized by wide-field fundus autofluorescence, is valuable for diagnostics and therapeutic decision-making.
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影响因子：
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