Kromberg J G, Castle D J, Zwane E M, Bothwell J, Kidson S, Bartel P, Phillips J I, Jenkins T
MRC Ecogenetics Unit, Department of Human Genetics, School of Pathology, SA Institute for Medical Research, Johannesburg, South Africa.
Ophthalmic Paediatr Genet. 1990 Sep;11(3):229-35. doi: 10.3109/13816819009020984.
Red or rufous albinism is a rare type of oculocutaneous albinism described, but not as yet fully investigated, in Africa and New Guinea. Twelve rufous albino subjects from 10 families participated in this preliminary study. The prevalence of rufous albinism was found to be approximately one in 8,580 among school children in the negroid population. The combination of the unusual red skin colour, ginger to reddish hair colour, low susceptibility to sun damage, and minimal visual problems, in affected individuals, suggested that they form a group which is distinct from the brown and other types of albinism. The mode of inheritance was found to be recessive. Tyrosinase assays showed that rufous albinos are tyrosinase positive and on electron microscopy studies normal melanosomes and melanocytes were observed in hair bulbs and skin. Visual evoked potential testing did not show the gross decussation abnormalities of the optic pathway detected in other types of albinism. Rufous albinism might be at one end of the spectrum of types of oculocutaneous albinism and, because affected people have such mild symptoms, their inclusion in this group might be debatable.
红色或赤褐色白化病是一种罕见的眼皮肤白化病类型,在非洲和新几内亚有相关描述,但尚未得到充分研究。来自10个家庭的12名赤褐色白化病患者参与了这项初步研究。在黑人种群的学龄儿童中,赤褐色白化病的患病率约为1/8580。受影响个体具有异常的红色皮肤、姜黄色至红棕色头发、对阳光损伤的低易感性以及轻微的视觉问题,这些特征表明他们构成了一个与棕色及其他类型白化病不同的群体。研究发现其遗传模式为隐性。酪氨酸酶检测显示赤褐色白化病患者酪氨酸酶呈阳性,电子显微镜研究发现在毛囊和皮肤中观察到正常的黑素小体和黑素细胞。视觉诱发电位测试未显示出在其他类型白化病中检测到的视神经通路明显交叉异常。赤褐色白化病可能处于眼皮肤白化病类型谱系的一端,并且由于受影响的人症状如此轻微,将他们纳入这一群体可能存在争议。