白化病。

Albinism.

作者信息

Kinnear P E, Jay B, Witkop C J

出版信息

Surv Ophthalmol. 1985 Sep-Oct;30(2):75-101. doi: 10.1016/0039-6257(85)90077-3.

Abstract

Albinism is the term applied to a heterogeneous group of genetically determined disorders characterized by hypopigmentation and affecting the eyes. After describing the clinical features of albinism in general, the authors discuss the various forms of oculocutaneous albinism, ocular albinism, and albinoidism that are of interest to the ophthalmologist. Emphasis is placed on the ocular features of each form. The visual pathway abnormalities and the clinical management of albinism are discussed.

摘要

白化病是一个术语，用于描述一组由基因决定的异质性疾病，其特征为色素沉着不足并累及眼睛。在总体描述白化病的临床特征之后，作者讨论了眼科医生感兴趣的各种眼皮肤白化病、眼白化病和类白化病的形式。重点阐述了每种形式的眼部特征。还讨论了白化病的视觉通路异常及临床处理。