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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。
Objective To investigate the clinical features and prognosis of patients with primary retinal pigment degeneration (RP) complicated with retinal vascular occlusion. Methods The clinical data of 18 patients (36 eyes) with primary RP complicated with retinal vascular occlusion were retrospectively reviewed. They included fundus examination, fundus fluorescein angiography, indocyanine green angiography, electroretinography and evoked potentials result. Three patients were genetically selected. Results The clinical manifestations of patients with primary RP complicated with retinal vascular occlusion were optic disc atrophy, retinal vascular thinning and extensive retinal pigment epithelial atrophy. Electroretinography showed a, b wave is no wave or almost no wave. Patients have night blindness history. Not only meet the clinical manifestations of primary RP, but also have its own characteristics of vascular occlusion, such as late blood vessels can be completely or nearly completely blocked, optic atrophy, choroidal vascular involvement, the final blinding speed faster than the primary RP, and no effect therapy. Three patients were genetically screened, and no gene mutation was found in the coding regions of RHO and RLBPI genes. Conclusion Primary RP with retinal vessel occlusion may belong to the category of retinal degeneration in the blanket. Progressive vascular occlusion may be the clinical manifestation of its mergence.