Park S, Albert D M, Bolognia J L
Massachusetts Eye and Ear Infirmary, Boston.
Dermatol Clin. 1992 Jul;10(3):609-22.
Disorders of pigmentation can result from either an abnormal number of melanocytes, as in nevus of Ota and vitiligo, or an abnormal amount of melanin production, as in albinism. Melanin-producing cells are found in the skin, mucous membranes, uveal tract, and retinal pigment epithelium of the eye and the stria vascularis of the inner ear. Thus, many of the hereditary or congenital pigmentary disorders of the skin are associated with similar pigmentary abnormalities in the eye, such as iris heterochromia or changes in pigmentation of the fundus; however, more commonly, the associated eye finding is a defect in ocular motility, i.e., strabismus and nystagmus, suggesting a concomitant defect in neurologic development. In albinos, the observed neurologic abnormality in the visual pathway and foveal hypoplasia are hypothesized to be related directly to the lack of melanin in the pigment epithelium during development. In acquired disorders of pigmentation, in particular, vitiligo, Vogt-Koyanagi-Harada syndrome, and onchocerciasis, there is a frequent association with uveitis, suggesting an inflammatory cause for the cutaneous pigmentary changes.
色素沉着紊乱可由黑素细胞数量异常引起，如太田痣和白癜风，也可由黑色素生成量异常引起，如白化病。产生黑色素的细胞存在于皮肤、黏膜、葡萄膜、眼睛的视网膜色素上皮以及内耳的血管纹中。因此，许多遗传性或先天性皮肤色素沉着紊乱与眼睛中类似的色素异常有关，如虹膜异色或眼底色素沉着变化；然而，更常见的是，相关的眼部表现是眼球运动缺陷，即斜视和眼球震颤，提示存在伴随的神经发育缺陷。在白化病患者中，视觉通路中观察到的神经异常和黄斑发育不全被认为与发育过程中色素上皮中黑色素的缺乏直接相关。在获得性色素沉着紊乱中，特别是白癜风、小柳原田综合征和盘尾丝虫病，常与葡萄膜炎相关，提示皮肤色素变化存在炎症原因。
