Strauss Rupert W, Muñoz Beatriz, Ahmed Mohamed I, Bittencourt Millena, Schönbach Etienne M, Michaelides Michel, Birch David, Zrenner Eberhart, Ervin Ann-Margret, Charbel Issa Peter, Kong Jun, Wolfson Yulia, Shah Mahmood, Bagheri Saghar, West Sheila, Scholl Hendrik P N
Wilmer Eye Institute, Johns Hopkins University, Baltimore, Maryland, USA.
Moorfields Eye Hospital, NHS Foundation Trust, and UCL Institute of Ophthalmology, University College London, London, United Kingdom.
Ophthalmic Res. 2018;60(3):185-194. doi: 10.1159/000491791. Epub 2018 Aug 15.
BACKGROUND/AIMS: To describe the design and baseline characteristics of patients enrolled in the multicenter, prospective natural history study of Stargardt disease type 4.
Fifteen eligible patients aged 6 years and older at baseline, harboring disease-causing variants in the PROM1 gene, and with specified ocular lesions were enrolled. They were examined at baseline using a standard protocol, with 6 monthly follow-up visits for a 2-year period including best-corrected ETDRS visual acuity, spectral-domain optical coherence tomography, fundus autofluorescence (FAF), mesopic and scotopic microperimetry (MP). Areas of definitely decreased FAF (DDAF) and questionably decreased FAF were outlined and quantified on FAF images.
Amongst the 15 patients (29 eyes) that were enrolled at 5 centers in the USA and Europe, 10 eyes (34.5%) had areas of DDAF with an average lesion area of 3.2 ± 3.5 mm2 (range 0.36-10.39 mm2) at baseline. The mean retinal sensitivity of the posterior pole derived from mesopic MP was 8.8 ± 5.8 dB.
Data on disease progression in PROM1-related retinopathy from this study will contribute to the characterization of the natural history of disease and the exploration of the utility of several modalities to track progression and therefore to potentially be used in future interventional clinical trials.
背景/目的：描述参与4型斯塔加特病多中心前瞻性自然史研究的患者的设计和基线特征。
纳入15例基线年龄6岁及以上、携带PROM1基因致病变异且有特定眼部病变的合格患者。他们在基线时采用标准方案进行检查，在2年期间每6个月随访一次，包括最佳矫正ETDRS视力、光谱域光学相干断层扫描、眼底自发荧光（FAF）、中视和暗视微视野检查（MP）。在FAF图像上勾勒并量化明确降低的FAF（DDAF）区域和可疑降低的FAF区域。
在美国和欧洲的5个中心纳入的15例患者（29只眼）中，10只眼（34.5%）在基线时有DDAF区域，平均病变面积为3.2±3.5 mm2（范围0.36 - 10.39 mm2）。中视MP得出的后极平均视网膜敏感度为8.8±5.8 dB。
本研究中关于PROM1相关视网膜病变疾病进展的数据将有助于疾病自然史的特征描述以及探索多种追踪进展的方法的效用，因此可能用于未来的干预性临床试验。
