Yee R D, Herbert P N, Bergsma D R, Biemer J J
Am J Ophthalmol. 1976 Jul;82(1):64-71. doi: 10.1016/0002-9394(76)90666-8.
Of three patients with familial hypobetalipoproteinemia, a 42-yeear-old white woman, who was homozygous for this autosomal dominantly inherited disease, had no detectable serum betalipoprotein and had a marked retinal pigmentary degeneration characterized by ring scotomas by Goldmann perimetry, extinguished electroretinographic responses, delayed responses and elevated thresholds during dark adaptometry, and abnoramal cone thresholds. A 4-year-old daughter and a 28-year-old niece of the first patient, who wer heterozygous, had reduced but detectable levels of serum betalipoprotein and no significant retinal pigmentary degeneration. Unlike patients with autosomal recessively inherited abetalipoproteinemia (the Bassen-Kornzweig syndrome), none of our patients had significant neurologic of cardiac defects. Although the level of serum betalipoprotein might be correlated with retinal pigmentary degeneration in familial hypobetalipoproteinemia and abetalipoproteinemia, it appears that neurologic and cardiac defects are dependent on other factors.
在三名家族性低β脂蛋白血症患者中，一名42岁的白人女性，她是这种常染色体显性遗传病的纯合子，血清中检测不到β脂蛋白，并有明显的视网膜色素变性，其特征为Goldmann视野检查显示环形暗点、视网膜电图反应消失、暗适应测量时反应延迟和阈值升高以及异常的视锥细胞阈值。第一名患者的一名4岁女儿和一名28岁侄女为杂合子，其血清β脂蛋白水平降低但可检测到，且无明显的视网膜色素变性。与常染色体隐性遗传性无β脂蛋白血症（巴森-科尔兹韦格综合征）患者不同，我们的患者均无明显的神经或心脏缺陷。尽管在家族性低β脂蛋白血症和无β脂蛋白血症中，血清β脂蛋白水平可能与视网膜色素变性相关，但神经和心脏缺陷似乎取决于其他因素。
