白化病：最新进展。

Albinism: an update.

作者信息

Orlow S J

机构信息

New York University Medical Center, New York 10016, USA.

出版信息

Semin Cutan Med Surg. 1997 Mar;16(1):24-9. doi: 10.1016/s1085-5629(97)80032-6.

DOI:10.1016/s1085-5629(97)80032-6

PMID:9125762

Abstract

Albinism connotes a large group of genetic disorders that are characterized by diminished ocular and oftentimes cutaneous pigmentation. These disorders are generally subclassified as oculocutaneous albinism (OCA) or ocular albinism (OA) based on the extent of their effects on the pigmentation of the skin and hair. Sometimes, different mutations in the same gene can cause OCA or OA.

摘要

白化病是指一大类遗传性疾病，其特征是眼部色素沉着减少，且常常伴有皮肤色素沉着减少。根据这些疾病对皮肤和毛发色素沉着的影响程度，通常将其分为眼皮肤白化病（OCA）或眼白化病（OA）。有时，同一基因的不同突变可导致OCA或OA。