Manning F J, Bruce A M, Berson E L
Berman-Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Boston, Massachusetts.
Am J Ophthalmol. 1990 Apr 15;109(4):457-63. doi: 10.1016/s0002-9394(14)74613-6.
We recorded full-field electroretinograms from a family with two daughters with microcephaly and chorioretinal degeneration and a third daughter and mother with microcephaly without chorioretinal degeneration. The two siblings with inferior chorioretinal degeneration showed electroretinographic responses to 0.5-Hz white light that were reduced 60% to 70% below normal, suggesting that the loss of photoreceptor function exceeded the areas of visible atrophy. The mother and third daughter had normal electroretinograms. The two siblings, ages 12 and 21 years, had virtually the same electroretinographic amplitudes. In a second family, a man with microcephaly and inferior chorioretinal degeneration, examined at ages 9 and 23 years, also showed 60% to 70% reduction in electroretinographic responses to 0.5-Hz white light and showed no change in amplitudes over the 14-year interval. These findings suggest that the chorioretinal degeneration sometimes associated with microcephaly is stable in young adult life, although the long-term prognosis remains to be defined.
我们记录了一个家庭的全视野视网膜电图，该家庭中有两个患有小头畸形和脉络膜视网膜变性的女儿，还有一个患有小头畸形但无脉络膜视网膜变性的女儿和母亲。两名患有脉络膜视网膜下变性的姐妹对0.5Hz白光的视网膜电图反应比正常水平降低了60%至70%，这表明光感受器功能丧失的范围超过了可见萎缩区域。母亲和第三个女儿的视网膜电图正常。这两名分别为12岁和21岁的姐妹，其视网膜电图振幅几乎相同。在另一个家庭中，一名患有小头畸形和脉络膜视网膜下变性的男性，在9岁和23岁时接受检查，对0.5Hz白光的视网膜电图反应也降低了60%至70%，并且在14年的间隔期内振幅没有变化。这些发现表明，有时与小头畸形相关的脉络膜视网膜变性在年轻成年期是稳定的，尽管长期预后仍有待确定。
