Department of Ophthalmology, Columbia University, New York, New York, USA.
Department of Ophthalmology, Columbia University, New York, New York, USA; Department of Pathology & Cell Biology, Columbia University, New York, New York, USA.
Am J Ophthalmol. 2018 Nov;195:16-25. doi: 10.1016/j.ajo.2018.07.018. Epub 2018 Jul 26.
To describe a distinct phenotypic outcome of outer retinal degeneration in a cohort of genetically confirmed patients with recessive Stargardt disease (STGD1).
Retrospective case series.
Twelve patients, who were clinically diagnosed with STGD1 and exhibited a unique degenerative phenotype, were included in the study. Two disease-causing mutations were found in all patients by direct sequencing of the ABCA4 gene. Clinical characterization of patients were defined on fundus photographs, autofluorescence images (488-nm and 532-nm excitation), spectral-domain optical coherence tomography (SD-OCT), and full-field electroretinogram (ffERG) testing.
Mean age at initial presentation was 67.8 years and reported age of symptomatic onset was 14.1 years (mean disease duration = 53.8 years). Best-corrected visual acuity ranged from 20/400 to hand motion. All patients exhibited advanced degeneration across the posterior pole resulting in a reflectively pale, blonde fundus owing to unobstructed exposure of the underlying sclera. SD-OCT revealed complete loss of the outer retinal bands (external limiting membrane, ellipsoid zone, interdigitation zone, and retinal pigment epithelium) and choroidal layers. Scotopic and photopic waveforms on ffERG were nonrecordable or severely attenuated in 8 patients who were tested.
Widespread scleral exposure is a clinical outcome in a subset of STGD1 following a long duration of disease progression (∼50 years). The blonde fundus in such cases may exhibit phenotypic overlap and shared therapeutic implications with other aggressive chorioretinal dystrophies such as end-stage choroideremia, gyrate atrophy, or RPE65-Leber congenital amaurosis.
描述一组遗传性隐性斯塔加特病（STGD1）患者中，外视网膜变性的独特表型结果。
回顾性病例系列。
本研究纳入了 12 名临床诊断为 STGD1 且表现出独特退行性表型的患者。通过直接测序 ABCA4 基因，在所有患者中均发现了两种致病突变。通过眼底照相、自发荧光图像（488nm 和 532nm 激发）、谱域光相干断层扫描（SD-OCT）和全视野视网膜电图（ffERG）检测对患者进行临床特征描述。
初次就诊时的平均年龄为 67.8 岁，报告的发病年龄为 14.1 岁（平均病程为 53.8 年）。最佳矫正视力范围从 20/400 到手动视力。所有患者的后极均有广泛的退行性变，导致反射性苍白、金发色眼底，这是由于下方巩膜未被遮挡而暴露所致。SD-OCT 显示外视网膜带（外界膜、椭圆体带、内插带和视网膜色素上皮）和脉络膜层完全丧失。在接受测试的 8 名患者中，ffERG 的暗视和明视波形无法记录或严重衰减。
在疾病进展（约 50 年）较长时间后，STGD1 的一个亚组会出现广泛的巩膜暴露这一临床表现。在这种情况下，金发色眼底可能表现出与其他侵袭性脉络膜视网膜营养不良（如晚期脉络膜变性、回旋性萎缩或 RPE65-Leber 先天性黑蒙）的表型重叠和共同的治疗意义。
