原发性视网膜色素变性合并血管闭塞的临床特点分析

目的探讨原发性视网膜色素变性(RP)合并视网膜血管闭塞患者的临床特点及预后。方法回顾性分析18例(36只眼)原发性RP合并视网膜血管闭塞患者的临床资料,包括眼底检查、荧光素眼底血管造影、吲哚氰绿血管造影、视网膜电图及视诱发电位等检查结果。对3例患者进行基因筛选。结果原发性RP合并视网膜血管闭塞患者的临床表现有视乳头萎缩、视网膜血管变细、广泛视网膜色素上皮萎缩。视网膜电图检查显示a、b波为无波型或近无波型。患者多有夜盲史。既符合原发性RP的临床表现,又具有血管闭塞的自身特征,如晚期血管可完全或近完全闭塞、视神经明显萎缩、脉络膜血管受累,最终致盲速度较原发性RP快,且无有效疗法。3例患者经基因筛查,在RHO及RLBPI两基因编码区中,未发现基因突变。结论原发性RP合并视网膜血管闭塞可能属于毯层视网膜变性范畴,血管进行性闭塞可能是其合并的临床表现。

The characteristics of retinitis pigmentosa with retinal vascular occlusion

Objective To observe clinical features of Retinitis pigmentosa with retinal vascular occlusion and its prognosis. Methods To analyze the clinical Data in 18 cases retrospectively using fundus examination, fundus fluorescein angiography, indocyanine green angiography, electroretinogram, visually evoked potential etc. Gene screening was performed in 3 cases. Results the major clinical manifestations of the disease were optic atrophy, vascular attenuation to obliteration, widespread retinal pigment epithelium atrophy with depigmentation and/or fine pigment spots ,total or nearly total a and b wave were extinct in the examination of electroretinogram. All this manifestations were compatible with that of typical Retinitis Pigmentosa(tapeto-retinal dystrophy). It also had its unique features, such as total or nearly total vascular obliteration, marked optic atrophy in later stage, and choroidal vessels abnormal. Gene mutation was not found in gene encoding area of RHO gene of No:3 chromosome and of RLBPI gene of No:15 chromosome. vision loss in this kind retinitis pigmentosa is much faster than that of typical retinitis pigmentosa. Conclusion Retinitis pigmentosa with retinal vascular occlusion may belonged to a kind of tapeto-retinal dystrophy, vascular progressive obliteration was probably its associated disease.