Khadamy Joobin, Elmi Sadr Navid
Ophthalmology, Skellefteå Eye Clinic, Skellefteå, SWE.
Ophthalmology, University Hospital of Umeå, Umeå, SWE.
Cureus. 2024 May 21;16(5):e60755. doi: 10.7759/cureus.60755. eCollection 2024 May.
Congenital simple hamartoma of the retinal pigment epithelium (CSHRPE) is a rare benign tumor often detected incidentally during routine eye exams. We present a case of multifocal CSHRPE in a 32-year-old Hispanic woman, emphasizing the diagnostic challenges posed by its presentation and the pivotal role of multimodal imaging in accurate diagnosis. Despite initial difficulties due to a history of trauma and pigmented fundus, advanced imaging techniques, including optical coherence tomography (OCT), OCT angiography (OCTA), fluorescein angiography (FA), and indocyanine green angiography (ICGA), facilitated a precise diagnosis. Notably, OCTA revealed high signal intensity and flow at the largest nodule site while FA and ICGA exhibited characteristic blockage patterns. Moreover, smaller nodules exhibited OCT findings supporting the theory of islands of retinal pigment epithelium (RPE) cells proliferating ectopically within the retina. Our case underscores the importance of comprehensive imaging assessment in distinguishing CSHRPE from other lesions, contributing to a deeper understanding of this rare ocular condition.
先天性视网膜色素上皮单纯性错构瘤（CSHRPE）是一种罕见的良性肿瘤，常在常规眼部检查时偶然发现。我们报告一例32岁西班牙裔女性的多灶性CSHRPE病例，强调其表现所带来的诊断挑战以及多模态成像在准确诊断中的关键作用。尽管由于外伤史和眼底色素沉着最初存在困难，但包括光学相干断层扫描（OCT）、OCT血管造影（OCTA）、荧光素血管造影（FA）和吲哚菁绿血管造影（ICGA）在内的先进成像技术有助于精确诊断。值得注意的是，OCTA显示最大结节部位有高信号强度和血流，而FA和ICGA表现出特征性的阻塞模式。此外，较小的结节表现出的OCT结果支持视网膜色素上皮（RPE）细胞在视网膜内异位增殖形成岛屿的理论。我们的病例强调了综合成像评估在鉴别CSHRPE与其他病变中的重要性，有助于更深入地了解这种罕见的眼部疾病。
