Warburg M
Am J Ophthalmol. 1978 Jan;85(1):88-94. doi: 10.1016/s0002-9394(14)76671-1.
A 6-year-old boy, whose parents were first cousins, had congenital retinal nonattachment in one eye and a falciform fold in the other. He had had a shunt operation for hydrocephaly. Oxygen was never administered and test results for rubella and toxoplasmosis were negative. The consanguinity in this case indicates the syndrome is an autosomal recessive trait. This and other hereditary disorders with congenital retinal nonattachment have previously been misinterpreted as retrolental fibroplasia occurring without oxygen treatment.
一名6岁男孩，其父母为近亲结婚，一只眼睛患有先天性视网膜脱离，另一只眼睛有镰状皱襞。他曾因脑积水接受分流手术。从未接受过吸氧治疗，风疹和弓形虫病检测结果均为阴性。该病例中的近亲结婚表明该综合征为常染色体隐性遗传特征。此前，这种疾病以及其他伴有先天性视网膜脱离的遗传性疾病曾被误诊为未经吸氧治疗而发生的晶状体后纤维增生症。
