家族黑蒙性痴呆是由遗传因素所致的神经系统类脂质障碍疾病。国内曾报告过1组婴儿型家族黑蒙性痴呆,现将我们所见的2例少年型黑蒙性痴呆报道如下。 例1:男性,13岁、汉族,四川简阳人,2年前发现视力下降,逐渐加重。近1年多来行走不稳,容易摔跤,智力明显减退。体检:发育较差、心肺腹正常、四肢无畸形。智力迟钝,计算与记忆力减退,视力右0.1,左0.05。双视乳头色较淡,边界清晰,视网膜色素不均、灰色黄斑中心凹反光消失,色素紊乱,有放射状纹理。眼球运动正常,无眼球震 Familial amaurosis is caused by genetic factors of the nervous system lipid disorders. China has reported a group of infants with dementia amaurosis, now we see 2 cases of juvenile dementia reported as follows. Example 1: Male, 13 years old, Han nationality, Sichuan Jianyang people, 2 years ago found that vision loss, and gradually increased. Nearly a year more than walking unstable, easy wrestling, mental decline. Physical examination: poor development, normal heart and lung abdomen, limb deformity. Mental retardation, calculation and memory loss, visual acuity 0.1, left 0.05. Bi-looking nipple lighter, clear borders, uneven retinal pigment, gray foveal reflex disappeared, pigment disorders, radial texture. Eye movement is normal, no nocturnal vibration