关键词: 视网膜与视网膜色素上皮联合错构瘤, 多模影像

Abstract:  Objective To analyze the multimodal imaging features of combined hamartoma of the retina and retinal pigment epithelium (CHRRPE) in macula. Design Retrospective case series. Participants Nine patients (9 eyes) with CHRRPE diagnosed at Daping Hospital, Army Medical University from November 2020 to May 2025. Methods A retrospective review of patient medical records. Main Outcome Measures Image findings of Color fundus photography, fundus fluorescein angiography (FFA), indocyanine green angiography (ICGA), spectral-domain optical coherence tomography (SD-OCT), and optical coherence tomography angiography (OCTA). Results This study included 9 patients (9 eyes) with a mean age of 16.44±10.24 years. All cases were unilateral. Color fundus photography showed that all lesions were located in the macular area, presenting with retinal vascular tortuosity, pigmentary disturbances, and membranous proliferation. Optical coherence tomography (OCT) revealed increased inner retinal thickness and structural disorder in all patients, while the outer retinal layers, RPE band, and choroid remained intact. A "shark-teeth sign" was observed in the outer plexiform layer in all 9 cases, and 6 patients exhibited an "omega sign" configuration in the inner retina. OCT angiography (OCTA) demonstrated high-density filamentous vessels within the macular retina in all 9 cases. Fundus fluorescein angiography (FFA) in the early phase showed tortuous and dilated capillaries across all lesions and patchy blocked fluorescence was seen in 5 cases. In the late phase, slight vascular staining was observed around the tumor in 1case, whereas no leakage was detected in the other 8 cases. Indocyanine green angiography (ICGA) performed in 5cases revealed varying degrees of choroidal fluorescence masking by the tumor, although no obvious choroidal vascular abnormalities were identified in any case. Conclusion The clinical features of CHRRPE in the macular area manifest as membrane-like proliferation at the macula, which can easily be confused with epiretinal membrane. Integrating multimodal imaging, particularly the "shark tooth" sign in the outer plexiform layer on OCT and the Ω-shaped configuration of the inner retinal layers, can significantly improve the diagnostic accuracy of this condition

Key words:  Combined hamartoma of the retina and retinal pigment epithelium, Multimodal imaging