Eye Research Center, The Five Senses Institute, Rassoul Akram Hospital, Iran University of Medical Sciences, Tehran, Iran.
Department of Medical Engineering, Faculty of Engineering, Imam Reza International University, Mashhad, Iran.
Ophthalmic Genet. 2024 Feb;45(1):78-83. doi: 10.1080/13816810.2023.2206889. Epub 2023 May 3.
Congenital simple hamartoma of the retinal pigment epithelium is often identified as an incidental finding. One important issue is the differentiation of these benign lesions from other lesions which could be potentially sight-threatening.
This study describes 4 cases of congenital simple hamartoma of the retinal pigment epithelium that were referred to a university-based hospital. Multimodal imaging including fundus photo, multicolor fundus photo, fundus autofluorescence, optical coherence tomography (OCT), OCT angiography, fluorescein angiography and multifocal electroretinogram is provided.
The first case is a young man with an incidental finding of this lesion. The second and third cases are diabetic patients with congenital simple hamartoma of the retinal pigment epithelium and diabetic macular edema and the fourth one is a case of congenital simple hamartoma of the retinal pigment epithelium with a full-thickness macular hole.
Differentiation of congenital simple hamartoma of the retinal pigment epithelium from other potentially sight-threatening lesions is important. Multimodal imaging can be helpful regarding this issue. Besides typical findings described in the literature, unique features in our cases include concurrent diabetic macular edema and association with a full-thickness macular hole.
先天性视网膜色素上皮单纯错构瘤常为偶然发现。一个重要的问题是将这些良性病变与其他可能威胁视力的病变区分开来。
本研究描述了 4 例就诊于一所大学附属医院的先天性视网膜色素上皮单纯错构瘤患者。提供了包括眼底照相、多光谱眼底照相、眼底自发荧光、光学相干断层扫描(OCT)、OCT 血管造影、荧光素血管造影和多焦视网膜电图在内的多种模态成像。
第 1 例为偶然发现该病变的年轻男性。第 2 例和第 3 例为糖尿病患者,患有先天性视网膜色素上皮单纯错构瘤和糖尿病性黄斑水肿,第 4 例为先天性视网膜色素上皮单纯错构瘤合并全层黄斑孔。
将先天性视网膜色素上皮单纯错构瘤与其他可能威胁视力的病变区分开来非常重要。多模态成像在这方面可能会有所帮助。除了文献中描述的典型表现外,我们病例的独特特征还包括并发糖尿病性黄斑水肿和与全层黄斑孔相关。