先天性分组白化病斑点1例  

A case of congenital grouped albinotic spots

作　　者：陆莹[1] 曾琴琴[1] Lu Ying;Zeng Qinqin(Center of Ophthalmology,the Second Affiliated Hospital of Nanchang University,Nanchang 330008,China)

机构地区：[1]南昌大学第二附属医院眼科中心,南昌330008

出　　处：《中华眼科杂志》2023年第9期744-747,共4页Chinese Journal of Ophthalmology

摘　　要：患儿男性,5岁。因发现左眼视力不佳2年就诊于眼科,全身无明显色素脱失,左眼眼底出现多个小而扁平、境界清楚的白色视网膜色素上皮病变。眼底自发荧光成像表现出与病变相对应的广泛的斑片状高自发荧光,荧光素血管造影显示这些斑点有早期且稳定的高荧光表现,无渗漏,相干光层析成像术检查发现与病变相对应的椭圆体带的增厚,物质堆积。临床诊断为先天性分组白化病斑点。This case report presents a 5-year-old male child with a complaint of poor vision in the left eye for the past 2 years,who sought ophthalmic evaluation.There was no apparent systemic pigment loss,but multiple small,flat,and well-defined white lesions were observed in the retinal pigment epithelium of the left eye.Autofluorescence imaging of the fundus revealed widespread patchy hyperautofluorescence corresponding to the lesions.Fluorescein angiography demonstrated early and stable hyperfluorescence without leakage in these spots.Optical coherence tomography examination revealed thickening and material accumulation in the ellipsoid zone that corresponded to the lesions.Based on clinical findings,the diagnosis of congenital grouped albinotic spots was established.

关 键 词：白化病 眼 视网膜色素上皮 荧光素血管造影术 体层摄影术 光学相干 

分 类 号：R774[医药卫生—眼科]