BACKGROUND Combined hamartoma of the retina and retinal pigment epithelium(CHRRPE)is a rare congenital benign tumor which is commonly monocular.Typical CHRRPE comprises slightly raised lesions at the posterior pole,wi...BACKGROUND Combined hamartoma of the retina and retinal pigment epithelium(CHRRPE)is a rare congenital benign tumor which is commonly monocular.Typical CHRRPE comprises slightly raised lesions at the posterior pole,with proliferation membrane often leading to vascular distortion.In severe cases,macular edema,macular hole,retinal detachment or vitreous hemorrhage may occur.Patients with atypical clinical manifestations are prone to misdiagnosis by inexperienced ophthalmologists.CASE SUMMARY A 33-year-old man reported onset of right eye blurred vision for one week prior.Anterior segment and intraocular pressure were normal in both eyes.Left eye fundus photography was normal.Right eye ophthalmoscopy showed vitreous hemorrhage and off-white raised retinal lesions below the optic disc.Proliferative membranes on the lesion surfaces resulted in superficial retinal detachment and tortuosity and occlusion of peripheral blood vessels.A horseshoe-like tear in the temporal periphery was surrounded by retinal detachment.Optical coherence tomography revealed retinal thickening at the focal site with structural disturbance indicated by high reflectance.Right eye ultrasound showed retinal thickening at the lesion,stretching and uplifting of the proliferative membrane,with moderately patchy echo at the optic disc edge.Cytokines and antibodies were detected in vitreous fluids during the operation to rule out other diseases.Fundus fluorescein angiography(FFA)at postoperative follow-up led to final diagnosis of CHRRPE.CONCLUSION FFA is helpful in diagnosing retinal and retinal pigment epithelial combined hamartoma.In addition,other cytokine and etiological tests facilitate further differential diagnosis to rule out other suspected diseases.展开更多
目的:研究家族性腺瘤性息肉病(familial adenomatous polyposis,FAP)患者中双眼多灶性先天性视网膜色素上皮肥厚(congenital hypertrophy of the retinal pigment epithelium,CHRPE)患者的眼底荧光素血管造影(fundus fluoresceinangiogr...目的:研究家族性腺瘤性息肉病(familial adenomatous polyposis,FAP)患者中双眼多灶性先天性视网膜色素上皮肥厚(congenital hypertrophy of the retinal pigment epithelium,CHRPE)患者的眼底荧光素血管造影(fundus fluoresceinangiography,FFA)的特点。方法:我们对22例有65处CHRPE病灶的FAP患者前瞻性进行FFA和眼底检查。结果:发现86%CHRPE病损面积>0.5个视盘直径,74%的CHRPE病变接近视网膜血管,视网膜血管有以下变化:46%CHRPE病变中出现毛细血管无灌注区,8%穿过病灶的视网膜血管部分阻塞,6%出现脉络膜视网膜吻合支,3%病变有毛细血管微血管瘤,5%可观察到脉络膜毛细血管,20%的脉络膜毛细血管出现在脱色素边缘晕环中。约10%的CHRPE病变眼底检查未发现,只能通过FFA观测到。结论:虽然通过眼底检查能诊断CHRPE,但有些病变仍需通过FFA确诊,其对此病变仍是非常有用的诊断方法。展开更多
文摘BACKGROUND Combined hamartoma of the retina and retinal pigment epithelium(CHRRPE)is a rare congenital benign tumor which is commonly monocular.Typical CHRRPE comprises slightly raised lesions at the posterior pole,with proliferation membrane often leading to vascular distortion.In severe cases,macular edema,macular hole,retinal detachment or vitreous hemorrhage may occur.Patients with atypical clinical manifestations are prone to misdiagnosis by inexperienced ophthalmologists.CASE SUMMARY A 33-year-old man reported onset of right eye blurred vision for one week prior.Anterior segment and intraocular pressure were normal in both eyes.Left eye fundus photography was normal.Right eye ophthalmoscopy showed vitreous hemorrhage and off-white raised retinal lesions below the optic disc.Proliferative membranes on the lesion surfaces resulted in superficial retinal detachment and tortuosity and occlusion of peripheral blood vessels.A horseshoe-like tear in the temporal periphery was surrounded by retinal detachment.Optical coherence tomography revealed retinal thickening at the focal site with structural disturbance indicated by high reflectance.Right eye ultrasound showed retinal thickening at the lesion,stretching and uplifting of the proliferative membrane,with moderately patchy echo at the optic disc edge.Cytokines and antibodies were detected in vitreous fluids during the operation to rule out other diseases.Fundus fluorescein angiography(FFA)at postoperative follow-up led to final diagnosis of CHRRPE.CONCLUSION FFA is helpful in diagnosing retinal and retinal pigment epithelial combined hamartoma.In addition,other cytokine and etiological tests facilitate further differential diagnosis to rule out other suspected diseases.
文摘目的:研究家族性腺瘤性息肉病(familial adenomatous polyposis,FAP)患者中双眼多灶性先天性视网膜色素上皮肥厚(congenital hypertrophy of the retinal pigment epithelium,CHRPE)患者的眼底荧光素血管造影(fundus fluoresceinangiography,FFA)的特点。方法:我们对22例有65处CHRPE病灶的FAP患者前瞻性进行FFA和眼底检查。结果:发现86%CHRPE病损面积>0.5个视盘直径,74%的CHRPE病变接近视网膜血管,视网膜血管有以下变化:46%CHRPE病变中出现毛细血管无灌注区,8%穿过病灶的视网膜血管部分阻塞,6%出现脉络膜视网膜吻合支,3%病变有毛细血管微血管瘤,5%可观察到脉络膜毛细血管,20%的脉络膜毛细血管出现在脱色素边缘晕环中。约10%的CHRPE病变眼底检查未发现,只能通过FFA观测到。结论:虽然通过眼底检查能诊断CHRPE,但有些病变仍需通过FFA确诊,其对此病变仍是非常有用的诊断方法。
