ObjectiveTo investigate the characteristics of fundus image in patients with combined hamartoma of the retina and retinal pigment epithelium (CHRRPE). Methods Eight eyes of 8 cases with CHRRPE were included in this study.There were 5 males and 3 females, ranging from 6 to 21 years old (mean 14.13 years).In all cases, unilateral eye was affected. The best-corrected visual acuity (BCVA) was 0.02 to 0.2. The intraocular pressure in all eyes was normal. The ocular anterior segment in all cases was alright. For all cases, fundus photography, fundus autofluorescence (AF), fundus fluorescein angiography (FFA) and spectral-domain optical coherence tomography (SD-OCT) were taken. The characteristics of fundus image were analyzed. ResultsAll the CHRRPE lesions located at posterior pole, presenting as yellow-white elevations, surrounded by hyperpigmentation. Retinal vascular tortuosity and proliferation of epiretinal membrane were found in all CHRRPE lesions. In 8 affected eyes, lesions were involved in macula and optic disc in 3 eyes (37.5%), lesions were located in macula in 5 eyes (62.5%). AF images showed lesion bulges and the surrounding hyperpigmentation corresponding to the local hypo-AF in 7 eyes (87.5%), dense epiretinal membrane corresponding to the local hyper-AF in 1 eye (12.5%). FFA showed local hypofluorescence of choroidal background corresponding to lesions and the surrounding hyperpigmentation, tortuous retinal vascular due to traction of shrinkage membranes. Retinal capillary leakage and the fluorescence brightness gradually increased in all lesions.No retinal hemorrhage, exudation, area of capillary non-perfusion, retinal and choroidal neovascularization could be found in 8 CHRRPE eyes. SD-OCT showed disorganized and elevated lesion with uneven reflectivity in inner retina, mild attenuation of the retinal pigment epithelium (RPE) and photoreceptor inner segment/outer segment junction in all CHRRPE eyes. Of the 8 CHRRPE eyes, cavernous hypo-reflective shadowing due to the shielded optical signal acquisition below dense epiretinal membranes in 2 eyes (25.0%), membrane-like hyper-reflective signals connecting with RPE in 1 eyes (12.5%). ConclusionsDecreased AF appear in the location of CHRRPE lesion and the surrounding hyperpigmentation. Hypofluorescence of choroidal background can be found in the early phase of FFA, the fluorescence brightness of CHRRPE lesion gradually increases in FFA process. The retinal elevation, attenuated signal reflection of the RPE and photoreceptor inner segment/outer segment junction in CHRRPE lesion can be verified by OCT.
Fibropolycystic liver diseases (FLDs) is a rare genetic disorder, including bile duct hamartomas, congenital hepatic fibrosis, polycystic liver disease, Caroli’s disease, and choledochal cysts. Fibropolycystic liver diseases has received little clinical attention and exhibits a variety of imaging manifestations, leading to a high likelihood of missed diagnosis and misdiagnosis. Through this case, we delineate the characteristic imaging manifestations of the disease and its underlying pathological mechanisms. Our objective is to enhance readers' comprehension of the disease and thereby reduce the rate of missed diagnosis and misdiagnosis of the disease.