单侧视网膜色素上皮发育异常（URPED）：新病例、文献综述以及与视网膜和视网膜色素上皮联合错构瘤（CHRRPE）异同的思考

Unilateral Retinal Pigment Epithelium Dysgenesis (URPED): New Cases, Literature Review, and Considerations of the Similarities and Differences with Combined Hamartoma of the Retina and Retinal Pigment Epithelium (CHRRPE).

作者信息

Cohen Salomon Y, Lathiere Thomas, Marechal Victoria, Rodriguez Francesco, Souied Eric, Shields Carol L

机构信息

Ophthalmic Center for Imaging and Laser, Paris, France.

the Department of Ophthalmology, Intercity Hospital, Creteil, France, the.

出版信息

Retin Cases Brief Rep. 2025 Jul 14. doi: 10.1097/ICB.0000000000001785.

DOI:10.1097/ICB.0000000000001785

PMID:40690768

Abstract

PURPOSE

To report new cases of unilateral retinal pigment epithelium dysgenesis (URPED), review the literature, and compare its characteristics with other conditions, including combined hamartoma of the retina and retinal pigment epithelium (CHRRPE).

METHODS

Case reports and analysis of multimodal imaging findings, and complications of URPED.

RESULTS

Three new male cases of typical URPED, aged 40-75 years, were described. With these new cases, in addition to those previously published, 26 cases in total were reported, highlighting the value of clinical and imaging tools. Clinically, URPED was detected at a mean age of 31 years, mainly in men (15/26, 57%), as a flat pigmented lesion (19/26, 73%), sometimes with a honeycomb pattern of the entire lesion (4/26, 15%), but systematically with spiculated or fringe-like margins (26/26, 100%). The tumor was systematically located at the posterior pole, generally contiguous with the optic disc (23/26, 88%). Fundus autofluorescence and fluorescein angiography systematically showed a characteristic inversion (black/white) of URPED at the spiculated margins. Indocyanine green angiography, electrophysiology, B-scan ultrasonography, and functional tests appeared to be of lesser diagnostic value. Optical coherence tomography showed a normal overlying retina, although retinal thinning with photoreceptor disruption and/or internal limiting membrane irregularities were sometimes observed. Other conditions, including CHRRPE, retinal hemangioblastoma, RPE adenoma/adenocarcinoma, and ocular trauma sequelae may present with a similar small area of spiculated border, usually associated with retinal thickening and folding, and a dense epiretinal membrane.

CONCLUSION

URPED has typical clinical and imaging features allowing differentiating it from other ocular conditions.

摘要

目的

报告单侧视网膜色素上皮发育异常（URPED）的新病例，回顾相关文献，并将其特征与其他病症进行比较，包括视网膜和视网膜色素上皮联合错构瘤（CHRRPE）。

方法

病例报告及多模态成像结果分析，以及URPED的并发症。

结果

描述了3例新的典型URPED男性病例，年龄在40 - 75岁之间。加上之前已发表的病例，共报告了26例，突出了临床和成像工具的价值。临床上，URPED的平均确诊年龄为31岁，主要见于男性（15/26，57%），表现为扁平色素性病变（19/26，73%），有时整个病变呈蜂窝状（4/26，15%），但边界均有毛刺状或边缘状（26/26，100%）。肿瘤均位于后极部，通常与视盘相邻（23/26，88%）。眼底自发荧光和荧光素血管造影均显示URPED在毛刺状边缘处有特征性反转（黑/白）。吲哚菁绿血管造影、电生理学、B超超声检查和功能测试的诊断价值似乎较小。光学相干断层扫描显示上方视网膜正常，不过有时可观察到视网膜变薄伴光感受器破坏和/或内界膜不规则。其他病症，包括CHRRPE、视网膜血管母细胞瘤、RPE腺瘤/腺癌和眼外伤后遗症，可能表现为类似的小面积毛刺状边界，通常伴有视网膜增厚和折叠，以及致密的视网膜前膜。