A Longitudinal Study of Stargardt Disease: Quantitative Assessment of Fundus Autofluorescence, Progression, and Genotype Correlations
A Longitudinal Study of Stargardt Disease: Quantitative Assessment of Fundus Autofluorescence, Progression, and Genotype Correlations
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DOI：
10.1167/iovs.13-12104
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发表时间：
2013-12-01
影响因子：
4.4
通讯作者：
Michaelides, Michel
中科院分区：
文献类型：
--
作者：
Fujinami, Kaoru;Lois, Noemi;Michaelides, Michel
目的。我们对眼底自发荧光 (AF) 的亚型和视网膜萎缩的进展进行了表征，并将这些发现与 Stargardt 病的基因型相关联。方法。对 68 名 Stargardt 病患者进行了全面的临床检查和 AF 成像。将基线数据与随访数据进行比较。患者被分为三种 AF 亚型：1 型在中央凹处有局部低信号，周围有均匀背景；2 型在黄斑处有局部低信号，周围有异质背景，有许多异常信号灶；3 型在后极处有多个低信号区，有异质背景。基线时，有 19 名患者患有 1 型疾病，41 名患者患有 2 型疾病，8 名患者患有 3 型疾病。测量 AF 信号减少的面积，并将萎缩扩大率 (RAE) 计算为萎缩大小随时间的差异 (mm(2)) 除以随访间隔（年）。对ABCA4进行了分子筛选。结果。平均随访间隔为 9.1 年。共有 42% 的 1 型疾病病例进展为 2 型，12% 的 2 型疾病进展为 3 型。基于基线 AF 亚型的 RAE (mm(2)/y) 存在显着差异； 1 型为 0.06，2 型为 0.67，3 型为 4.37。在 57 名患者中发现了 ABCA4 变异。 AF 亚型和基因型之间存在显着相关性。结论。基线时的 AF 模式会随着时间的推移影响萎缩的扩大，并且具有遗传相关性。这些数据可能有助于提供斯塔加特病预后咨询，并对未来的临床试验有价值。
PURPOSE. We characterized subtypes of fundus autofluorescence (AF) and the progression of retinal atrophy, and correlated these findings with genotype in Stargardt disease.METHODS. Full clinical examination and AF imaging was undertaken in 68 patients with Stargardt disease. The baseline data were compared to those at follow-up. Patients were classified into three AF subtypes: type 1 had a localized low signal at the fovea surrounded by a homogeneous background, type 2 had a localized low signal at the macula surrounded by a heterogeneous background with numerous foci of abnormal signal, and type 3 had multiple low signal areas at the posterior pole with a heterogeneous background. At baseline, there were 19 patients with type 1, 41 with type 2, and 8 with type 3 disease. The areas of reduced AF signal were measured and rate of atrophy enlargement (RAE) was calculated as the difference of the atrophy size over time (mm(2)) divided by the follow-up interval (years). Molecular screening of ABCA4 was undertaken.RESULTS. The mean follow-up interval was 9.1 years. A total of 42% cases with type 1 disease progressed to type 2, and 12% with type 2 progressed to type 3. The RAE (mm(2)/y) based upon baseline AF subtypes was significantly different; 0.06 in type 1, 0.67 in type 2, and 4.37 in type 3. ABCA4 variants were identified in 57 patients. There was a significant association between AF subtype and genotype.CONCLUSIONS. The AF pattern at baseline influences the enlargement of atrophy over time and has genetic correlates. These data are likely to assist in the provision of counseling on prognosis in Stargardt disease and be valuable for future clinical trials.