Multimodal imaging in a patient with combined hamartoma of the retina and retina pigment epithelium

ABSTRACT Combined hamartoma of the retina and retinal pigment epithelium is a rare, benign intraocular tumor. Hamartoma of the retina and retinal pigment epithelium has been described in the literature as a condition presenting with variable retinal damage, ranging from partial epiretinal involvement to complete distortion of the retinal layers and retinal pigment epithelium. We report the case of an 8-year-old girl presenting with longstanding strabismus who was diagnosed with Hamartoma of the retina and retinal pigment epithelium based on multimodal imaging assessment. We explored the particular imaging findings from studies using spectral-domain optical coherence tomography, fundus autofluorescence, optical coherence tomography angiography, and fluorescein angiography.

摘要：视网膜与视网膜色素上皮联合错构瘤（Combined hamartoma of the retina and retinal pigment epithelium）是一种罕见的良性眼内肿瘤。既往文献表明，该病症可出现程度各异的视网膜损伤，累及范围从局部视网膜前膜受累，直至视网膜各层与视网膜色素上皮的完全结构扭曲。本文报告1例以长期斜视为临床表现的8岁女童，经多模态影像评估确诊为视网膜与视网膜色素上皮联合错构瘤。本研究探讨了采用光谱域光学相干断层扫描（spectral-domain optical coherence tomography）、眼底自发荧光（fundus autofluorescence）、光学相干断层扫描血管造影（optical coherence tomography angiography）及荧光素眼底血管造影（fluorescein angiography）所获得的特征性影像表现。