【摘要】 目的:探讨应用单通道图形翻转视觉诱发电位(PR-VEP)诊断白化病的可行性及其临床意义。方法:对临床怀疑为白化病的患者进行单通道PR-VEP检查及其相关的眼科检查,并作基因检测以确诊。观测PR-VEP主波P100的潜伏期。结果:在16名受检者中,有15名的P100潜伏期表现异常,其中右眼P100延迟的11例、提前的2例,左眼P100延迟的12例、1例未引出VEP,两眼间P100潜伏期不对称的10例。眼科检查主要表现为:虹膜透射、视网膜黑色素减退,眼球震颤、屈光不正,黄斑中心凹发育不良、弱视等。全部病例经基因检测均确诊为白化病。结论:白化病患者单通道PR-VEP的异常表现主要为P100潜伏期的延迟和两眼间不对称,结合白化病的临床表现和其他眼科检查,有助于临床诊断。更多还原

【Abstract】 Aim:To explore the feasibility and clinical significance of single channel pattern reversal visual evoked potential(PR-VEP) diagnosing albinism. Methods: The suspected cases of albinism were checked using signal channel PR-VEP and related ophthalmologic examination,and finally diagnosed by genetic test.The latency of the major positive wave P100 was observed and recorded.Results: In sixteen subjects,fifteen subjects had abnormal P100 latency,including right eye P100 delay in 11 cases,advance in 2 cases,left eye P100 delay in 12 cases,no drawn VEP in 1 case,asymmetric P100 latency between two eyes in 10 cases.The main performance of ophthalmic testing: iris transillumination,retina hypopigmentation,nystagmus,refractive errors,foveal hypoplasia,amblyopia,et al.All the cases were finally diagnosed as albinism by genetic test.Conclusion:The main abnormal appearances of single channel PR-VEP in albinism were P100 latency delay and asymmetry between the two eyes.Single channel PR-VEP in conjunction with the clinical manifestations of albinism and other ophthalmologic examination is helpful for clinical diagnosis.更多还原