Hittner H M, King R A, Riccardi V M, Ledbetter D H, Borda R P, Ferrell R E, Kretzer F L
Am J Ophthalmol. 1982 Sep;94(3):328-37. doi: 10.1016/0002-9394(82)90358-0.
Nine patients with Prader-Willi syndrome (five female and four male; one Oriental and eight white), all of whom had interstitial deletions of the proximal long arm of one chromosome 15 (q11-q13) were found to have decreased tyrosinase activity in isolated hair bulbs. As infants, all patients had light hair and skin coloring, both of which darkened with age. Light and electron microscopic analysis of skin and hair bulbs disclosed a reduced number of melanocytes in the basal epidermis and hair bulbs. Each patient demonstrated decreased pigmentation of the iris stroma, which was accentuated peripherally and manifested clinically as iris translucency. There was no foveal hypoplasia, nystagmus, or photophobia, and ocular function was normal. Oculocutaneous albinoidism is thus a component of del(15q) Prader-Willi syndrome with reduction of melanocytes of neural crest origin (skin, hair, and iris stroma) and retention of normal retinal and iris pigment epithelia of neuroectodermal origin.
9名普拉德-威利综合征患者（5名女性和4名男性；1名东方人，8名白人），均存在15号染色体长臂近端（q11-q13）的间质性缺失，发现其分离的毛球中酪氨酸酶活性降低。婴儿期时，所有患者头发和皮肤颜色均较浅，两者均随年龄增长而变深。对皮肤和毛球进行光镜和电镜分析发现，基底表皮和毛球中的黑素细胞数量减少。每位患者虹膜基质色素沉着均减少，周边更为明显，临床上表现为虹膜半透明。未发现黄斑发育不全、眼球震颤或畏光现象，眼功能正常。因此，眼皮肤白化病样表现是15号染色体长臂缺失（del(15q)）型普拉德-威利综合征的一个组成部分，其神经嵴来源的黑素细胞（皮肤、毛发和虹膜基质）减少，而神经外胚层来源的视网膜和虹膜色素上皮保持正常。
