中文摘要：

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。

英文摘要：

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.