Cook G R, Knobloch W H
Am J Ophthalmol. 1982 Jul;94(1):18-25. doi: 10.1016/0002-9394(82)90185-4.
We conducted a ten-year follow-up of an unusual pedigree with an autosomal recessive vitreoretinal degeneration, severe myopia, and congenital encephalocele. All five affected members (four girls and one boy) also had early, recurrent bilateral detachments. Color vision testing disclosed an acquired tritan dyschromatopsia and electroretinography showed subnormal photopic and scotopic amplitudes, delayed b-wave implicit times and 30-Hz flicker-phase relations, and absent scotopic b-wave oscillations.
我们对一个患有常染色体隐性遗传性玻璃体视网膜变性、重度近视和先天性脑膨出的特殊家系进行了为期十年的随访。所有五名患病成员（四名女孩和一名男孩）还患有早期复发性双侧视网膜脱离。色觉测试显示获得性蓝色盲，视网膜电图显示明视觉和暗视觉振幅低于正常、b波潜伏期延迟、30Hz闪烁相位关系异常以及暗视觉b波振荡消失。
