孤立性先天性视网膜色素上皮细胞增生的临床观察

目的 观察孤立性先天性视网膜色素上皮增生（CHRPE）的临床特征。方法 回顾分析13例孤立性CHRPE患者的眼底和FFA检查资料。患者中男9例，女4例；平均年龄27.8岁。均行视力、裂隙灯显微镜、间接检眼镜和荧光素眼底血管造影（FFA）检查。结果 患者均为单眼发病，不伴有全身疾患；多无自觉症状。初诊明确诊断者仅占30.77%，其余分别误诊为脉络膜痣、陈旧性脉络膜视网膜病变以及未作诊断。眼底均可见黑色圆形或卵圆形病变，位于视盘者占7.69%；颞下方者占46.15%；颞上方者占30.77%；鼻下方者占15.39%。病灶内或病灶外色素脱失，病灶为色素性者占92.31%；为无色素性者占7.69%。FFA显示病灶区内遮蔽荧光和透见荧光，少数患眼可见其间有毛细血管轻度扩张，后期轻微荧光素渗漏；多数患眼视网膜血管显影正常。结论 孤立性CHRPE为缺乏自觉症状的眼底黑色圆形或卵圆形病变，主要位于眼底周边部；FFA特征为遮蔽荧光和透见荧光。常误诊为其他眼底疾病，结合其眼底表现和FFA检查有利于作出正确诊断。

Clinical observation on isolated congenital hypertrophy of retinal pigment epithelium

Objective To observe the clinical features of congenital hypertrophy of retinal pigment epithelium(CHRPE). Methods The clinical data of 13 CHRPE patients including visual acuity,slitlamp microscope examination,indirect ophthalmoscope examination and fundus fluorescein angiography (FFA)were retrospectively analyzed.The patients,9 males and 4 females,with the mean age of 27.8 years. Results An patients were unilateral,without systemic diseases and no subjective symptoms in majority.Only 30.77% of initial diagnosis was correct,other diagnosis include choroidai nevi,old chorioretinopathy or no diagnosis.The round or oval black lesion was found in ocular fundus of all patients,7.69% was loeated on the optic disk,46.15% was located on the inferior temporal retina,30.77% was loeated on the superior temporal retina,15.39% was Iocated on the inferior nasal retina.92.31% was pigmented CHRPE and 7.69% was non-pigmented CHRPE.FFA showed blockedfluorescence and transmitted fluorescence in the lesion,few eyes were found dilated capillary vessel and fluorescent Ieakage on the late stage of FFA,most eyes had normal retinal vessels. Conclusion The isolated CHRPE is round or oval black Iesion in ocular fundus which lack of subjective symptoms, mostly located on the peripheral retina;the FFA characteristics showed blocked fluorescence and transmitted fluorescence,and CHRPE often misdiagnosed as other disease,it should be combine the ocular fundus manifestation with the FFA to diagnose properly.