Abstract：
OBJECTIVE: To further enhance understanding of the expanded clinical spectrum of unilateral retinal pigment epithelium dysgenesis (URPED) via numerous imaging modalities including novel markers of highly detailed indocyanine green angiography (ICGA) features.
METHODS: Retrospective, observational, case report.
RESULTS: URPED in this patient is expressed as a solitary, flat and pigmented lesion in the posterior pole with RPE hyperplasia and atrophic changes. An epiretinal membrane (ERM) causing fine, tortuous retinal vessels and retinal folds was observed. Green and blue excitation light fundus autofluorescence showed a biphasic appearance with hypoautofluorescent rounded lesions and a reticular configuration of normal RPE. Fundus fluorescein angiography revealed diffuse hypofluorescence and hyperfluorescent wisps of leakage in late-phases. Early-phase of ICGA evidenced diffuse hypocianescence and a delineated hypercianescent scalloped margin appeared in the late-phase, together with focal hypocianescent spots. SD-OCT demonstrated irregularity of the RPE with fibrosis and hyperplastic changes combined with atrophic areas. Flat RPE detachments intermingled with healthy-appearing RPE were also observed together with thinning of the outer retina. ERM with thickening and disorganization involving the whole retina was present. Optical coherence tomography angiography (14 × 14 mm) revealed an oval shape foveal avascular zone and vascular anomalies such as tortuosity and looping.
CONCLUSIONS: URPED is an extremely rare clinical entity with only a few cases reported. In this case the almost pathognomonic differential features of URPED were best appreciated with ICGA imaging. To our knowledge, this is the first reported case of URPED with these abnormal findings on ICGA meaning it could be part of the spectrum of the disease.
METHODS: Retrospective, observational, case report.
RESULTS: URPED in this patient is expressed as a solitary, flat and pigmented lesion in the posterior pole with RPE hyperplasia and atrophic changes. An epiretinal membrane (ERM) causing fine, tortuous retinal vessels and retinal folds was observed. Green and blue excitation light fundus autofluorescence showed a biphasic appearance with hypoautofluorescent rounded lesions and a reticular configuration of normal RPE. Fundus fluorescein angiography revealed diffuse hypofluorescence and hyperfluorescent wisps of leakage in late-phases. Early-phase of ICGA evidenced diffuse hypocianescence and a delineated hypercianescent scalloped margin appeared in the late-phase, together with focal hypocianescent spots. SD-OCT demonstrated irregularity of the RPE with fibrosis and hyperplastic changes combined with atrophic areas. Flat RPE detachments intermingled with healthy-appearing RPE were also observed together with thinning of the outer retina. ERM with thickening and disorganization involving the whole retina was present. Optical coherence tomography angiography (14 × 14 mm) revealed an oval shape foveal avascular zone and vascular anomalies such as tortuosity and looping.
CONCLUSIONS: URPED is an extremely rare clinical entity with only a few cases reported. In this case the almost pathognomonic differential features of URPED were best appreciated with ICGA imaging. To our knowledge, this is the first reported case of URPED with these abnormal findings on ICGA meaning it could be part of the spectrum of the disease.
摘要：
目的：通过多种成像方式，包括高度详细的吲哚菁绿血管造影（ICGA）特征的新型标志物，进一步加深对单侧视网膜色素上皮发育不全（URPED）的扩大临床范围的理解。
方法：回顾性，观察,病例报告。
结果：该患者的URPED表示为孤立，后极部平坦和色素性病变伴RPE增生和萎缩性改变。视网膜前膜（ERM）导致罚款，观察到弯曲的视网膜血管和视网膜褶皱。绿色和蓝色激发光眼底自发荧光显示双相外观，具有低自发荧光圆形病变和正常RPE的网状构型。荧光素眼底血管造影显示晚期弥漫性低荧光和高荧光渗漏。ICGA的早期阶段证明了弥漫性下摆，晚期出现了明显的扇形扇形边缘，以及局灶性低度斑点。SD-OCT显示RPE的不规则性，纤维化和增生性变化与萎缩性区域相结合。还观察到平坦的RPE脱离与健康的RPE混合，以及外部视网膜变薄。存在涉及整个视网膜的增厚和无序的ERM。光学相干断层扫描血管造影（14×14mm）显示椭圆形中央凹无血管区和血管异常，例如弯曲和循环。
结论：URPED是一种极其罕见的临床实体，仅报道了少数病例。在这种情况下，ICGA成像最好地理解URPED的几乎病理学差异特征。据我们所知,这是报告的第一例URPED病例,在ICGA上有这些异常发现,这意味着它可能是疾病谱的一部分.
方法：回顾性，观察,病例报告。
结果：该患者的URPED表示为孤立，后极部平坦和色素性病变伴RPE增生和萎缩性改变。视网膜前膜（ERM）导致罚款，观察到弯曲的视网膜血管和视网膜褶皱。绿色和蓝色激发光眼底自发荧光显示双相外观，具有低自发荧光圆形病变和正常RPE的网状构型。荧光素眼底血管造影显示晚期弥漫性低荧光和高荧光渗漏。ICGA的早期阶段证明了弥漫性下摆，晚期出现了明显的扇形扇形边缘，以及局灶性低度斑点。SD-OCT显示RPE的不规则性，纤维化和增生性变化与萎缩性区域相结合。还观察到平坦的RPE脱离与健康的RPE混合，以及外部视网膜变薄。存在涉及整个视网膜的增厚和无序的ERM。光学相干断层扫描血管造影（14×14mm）显示椭圆形中央凹无血管区和血管异常，例如弯曲和循环。
结论：URPED是一种极其罕见的临床实体，仅报道了少数病例。在这种情况下，ICGA成像最好地理解URPED的几乎病理学差异特征。据我们所知,这是报告的第一例URPED病例,在ICGA上有这些异常发现,这意味着它可能是疾病谱的一部分.
