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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。
Objective: To investigate the feasibility and clinical significance of single-channel pattern inversion visual evoked potentials (PR-VEP) in the diagnosis of albinism. Methods: Single-channel PR-VEP examination and related ophthalmological examination were performed on patients suspected of albinism, and gene tests were performed to confirm the diagnosis. Observe the latency of PR-VEP P100 wave. Results: Of the 16 subjects, 15 had abnormal P100 latency. Among them, 11 cases of delayed P100 in right eye, 2 cases in early stage, 12 cases delayed in left eye P100, 1 case did not induce VEP, 10 cases of asymmetric P100 latency. Eye examination mainly as follows: iris transmission, retinal melanoma, nystagmus, refractive errors, macular foveal dysplasia, amblyopia and so on. All cases were diagnosed as albinism by genetic testing. Conclusions: The abnormal manifestations of single-channel PR-VEP in patients with albinism are mainly due to the delay of P100 latency and the asymmetry between the two eyes. Combined with the clinical manifestations of albinism and other ophthalmological examinations, it is helpful for the clinical diagnosis.