Oculocutaneous albinism (OCA) is the most frequent presentation of albinism, a heterogeneous rare genetic condition generally associated with variable alterations in pigmentation and with a profound visual impairment. There are non-syndromic and syndromic types of OCA, depending on whether the gene product affected impairs essentially the function of melanosomes or, in addition, that of other lysosome-related organelles (LROs), respectively. Syndromic OCA can be more severe and associated with additional systemic consequences, beyond pigmentation and vision alterations. In addition to OCA, albinism can also be presented without obvious skin and hair pigmentation alterations, in ocular albinism (OA), and a related genetic condition known as foveal hypoplasia, optic nerve decussation defects, and anterior segment dysgenesis (FHONDA). In this review, we will focus only in the genetics of skin pigmentation in OCA, both in human and mouse, updating our current knowledge on this subject.

中文翻译：

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人和小鼠非综合征和综合征眼皮肤白化病的遗传学

眼皮肤白化病 (OCA) 是白化病最常见的表现，这是一种异质的罕见遗传病，通常与色素沉着的可变改变和严重的视力障碍有关。OCA 有非综合征型和综合征型，这取决于受影响的基因产物是否主要损害黑素体的功能，或者另外，分别损害其他溶酶体相关细胞器 (LRO) 的功能。除了色素沉着和视力改变之外，综合征性 OCA 可能更严重，并与其他系统性后果相关。除了 OCA，白化病也可以在没有明显皮肤和头发色素沉着改变的情况下出现，如眼白化病 (OA) 和称为中心凹发育不全、视神经交叉缺陷和眼前节发育不全 (FHONDA) 的相关遗传病。在本次审查中，