Department of Ophthalmology, Cochin Hospital, Paris, France.
Université Paris-Cité, Centre de Recherches des Cordeliers, Paris, France.
Eur J Ophthalmol. 2024 Jan;34(1):NP118-NP122. doi: 10.1177/11206721231187667. Epub 2023 Jul 9.
To describe multimodal imaging of two cases of bilateral non-vascularized pigment epithelial detachments (PED) in young patients with a long-term follow-up.
A complete ophthalmological examination was performed at each follow-up visit including best corrected visual acuity (BCVA), intraocular pressure, slit lamp examination, spectral domain optical coherence tomography (SD-OCT), fluorescein and indocyanine green angiography, OCT angiography.
Multimodal imaging of two women presenting avascular PED, aged 43 and 57, respectively, was described. In both patients, SD-OCT revealed a high central macular hyporeflective elevation corresponding with PED. Both patients showed a choroidal layer thicker than 420 μm. Fluorescein and indocyanine green angiography didn't show any choroidal neovascularization either at early or late frames. Cross-sectional and en face optical coherence tomography angiography (OCTA) didn't show any flow beneath the PED. During the follow up period one eye showed a retinal pigment epithelium tear and all eyes showed the presence of apical sub-retinal fluid and hyperreflective material on the top of the PED. None of the two patients showed any sign of atrophy during the follow-up period.
The peculiar characteristics of the presented cases suggest that specific pathogenetic mechanisms, not necessarily related to age related macular degeneration, may play a key role in the development of these lesions. Whether early onset of such drusenoid PED is a specific entity resulting from a genetic deficit of lipid transporters in the RPE is unknown. Further genetic and metabolic studies should be conducted.
描述两名年轻患者双侧非血管性色素上皮脱离(PED)的多模态成像,并进行长期随访。
每次随访时均进行全面的眼科检查,包括最佳矫正视力(BCVA)、眼压、裂隙灯检查、谱域光相干断层扫描(SD-OCT)、荧光素和吲哚青绿血管造影、OCT 血管造影。
描述了两名分别为 43 岁和 57 岁的无血管 PED 女性患者的多模态成像。在这两名患者中,SD-OCT 均显示中央黄斑区高反射性抬高,与 PED 相对应。两名患者的脉络膜层均厚于 420μm。荧光素和吲哚青绿血管造影在早期或晚期均未显示任何脉络膜新生血管。横断面和共面光相干断层扫描血管造影(OCTA)未显示 PED 下方有任何血流。在随访期间,一只眼出现视网膜色素上皮撕裂,所有眼均出现顶部PED 上方的视网膜下液和高反射物质。在随访期间,两名患者均未出现任何萎缩迹象。
所呈现病例的特殊特征表明,特定的发病机制(不一定与年龄相关性黄斑变性有关)可能在这些病变的发展中起关键作用。这些类似 drusen 的 PED 是否为 RPE 中脂质转运蛋白的遗传缺陷导致的特定早期发病实体尚不清楚。应进行进一步的遗传和代谢研究。