Knobloch W H
Trans Am Ophthalmol Soc. 1975;73:417-51.
Twenty-one patients from five families displaying the ocular defects of dominantly inherited hyaloideoretinopathy as originally described by Wagner were surveyed radiographically for skeletal defects. A mild generalized epiphyseal dysplasia was found in twenty. A comparison of the skeletal dysplasia associated with arthro-ophthalmopathy and that found in families with Wagner's disease reveals more similarities than differences. It is concluded that Wagner's disease is a dominantly inherited syndrome of ocular defects that includes myopia, vitreous syneresis with membranes, and radial perivascular chorioretinal degeneration. It is associated with radiographically demonstrated generalized epiphyseal dysplasia that is manifested clinically by flattening of the mid-face and palatoschisis.
对来自五个家族的21名患者进行了X线检查，以确定是否存在骨骼缺陷。这些患者表现出如Wagner最初所描述的显性遗传性玻璃体视网膜病变的眼部缺陷。在20名患者中发现了轻度全身性骨骺发育异常。对与关节眼病相关的骨骼发育异常和瓦格纳病家族中发现的骨骼发育异常进行比较，结果显示相似之处多于不同之处。得出的结论是，瓦格纳病是一种显性遗传的眼部缺陷综合征，包括近视、伴有膜的玻璃体脱离和放射性血管周围脉络膜视网膜变性。它与X线检查显示的全身性骨骺发育异常有关，临床上表现为中面部扁平及腭裂。
