PDF(Pubmed)
Abstract：
Albinism describes a heterogeneous group of genetically determined disorders characterized by disrupted synthesis of melanin and a range of developmental ocular abnormalities. The main ocular features common to both oculocutaneous albinism (OCA), and ocular albinism (OA) include reduced visual acuity, refractive errors, foveal hypoplasia, congenital nystagmus, iris and fundus hypopigmentation and visual pathway misrouting, but clinical signs vary and there is phenotypic overlap with other pathologies. This study reviews the prevalence, genetics and ocular manifestations of OCA and OA, including abnormal development of the optic chiasm. The role of visual electrophysiology in the detection of chiasmal dysfunction and visual pathway misrouting is emphasized, highlighting how age-associated changes in visual evoked potential (VEP) test results must be considered to enable accurate diagnosis, and illustrated further by the inclusion of novel VEP data in genetically confirmed cases. Differential diagnosis is considered in the context of suspected retinal and other disorders, including rare syndromes that may masquerade as albinism.
摘要：
白化病描述了一组异质性的遗传决定的疾病，其特征是黑色素合成中断和一系列发育性眼部异常。眼皮肤白化病（OCA）常见的主要眼部特征，和眼白化病（OA）包括视力下降，屈光不正,中央凹发育不全,先天性眼球震颤,虹膜和眼底色素减退和视觉通路错误，但是临床症状各不相同，并且与其他病理有表型重叠。这项研究回顾了患病率，OCA和OA的遗传学和眼部表现，包括视交叉的异常发育。强调了视觉电生理学在检测交叉功能障碍和视觉通路错误中的作用，强调必须如何考虑视觉诱发电位（VEP）测试结果的年龄相关变化，才能进行准确诊断，并通过在遗传证实的病例中纳入新的VEP数据进一步说明。在怀疑视网膜和其他疾病的情况下考虑鉴别诊断，包括可能伪装成白化病的罕见综合征。
