儿童视网膜色素变性临床特点分析

Clinical characteristicsof retinitis pigmentosa in children

目的探讨儿童视网膜色素变性在诊断和治疗方面的临床特点。方法将符合准入标准的27名14岁以下视网膜色素变性患者在进行视野检查后,分为有家族史患者组和无家族史患者组,用二十二碳六烯酸胶囊、β-胡萝卜素胶囊、血脂康胶囊治疗1年,以中心视力和视野平均缺损敏感度(MD)作为疗效的观察指标。观察总结儿童视网膜色素变性患者在诊断和治疗中的临床特点。结果归纳儿童视网膜色素变性患者的临床特点有:(1)他人发现患者患病;(2)全自动视野检测是首选的检查手段;(3)可能会有极少数患者被误诊;(4)无家族史患者比有家族史患者的治疗效果好。结论儿童视网膜色素变性患者具有4个临床特点。

Objective To investigate the clinical presentation and therapeuticalmethodsof retinitis pigmentosa（RP） in children. Methods Twenty seven children younger than 14 years old who were diagnosed with RP and met the study criteria were enrolled. Patients received Humphrey automatic perimeter examination and were assigned into 2 groups according to the hereditary pattern of the RP（hereditary or non-hereditary）. All patients received treatments with docosahexaenoic acid,vitamin A palmitate,zeaxanthin,monacolin K and selenium for one year. Visual acuity（ VS） and mean deviation（MD） of visual field were recorded in the beginning and at the end of study. Results The chief complaint of RP were impaired nocturnal vision,and mainly were reported by parents rather than patients themselves. Some asymptomatic patients were brought to clinic because of family history. After one year treatment,mean deficits in perimetry increased in non-hereditary patients（ P 〈0. 05） while were not changed in hereditary patients. There was no change in central visual acuity in both groups. Conclusion Symptoms of RP,e. g.,impaired nocturnal vision,were oftennoticed by parents or siblings rather than patients themselves. Automatic perimeter examination is a preferred screening method for RP. Dspite that,mis-diagnosis could still happen to some patients. Treatment outcomeswere generally better in non-hereditary patients than in hereditary patients.