Babel J, Cabernard E, Klein D, Korol S, Kräuchi H, Schafroth P
Graefes Arch Clin Exp Ophthalmol. 1982;219(5):236-51. doi: 10.1007/BF00231242.
A description is given of a large family in which a particular form of posterior pole dystrophy occurs, but in which (except for one 21-year-old patient) no symptoms occur before the age of forty. Although it is of dominant transmission through four generations with a high degree of penetrance, slight forms do occur. The disease evolves in 2-4 years and in serious cases there is total loss of the central vision. Peripheral vision is conserved, so that affected patients are never entirely disabled and dependent. Early or slight cases may be precociously detected by angiography or sensitive functional tests (EOG, VER, and perhaps colour vision). The rapid evolution is due to exudative or haemorrhagic phenomena. This observation corresponds with the description of the disease individualized by Sorsby (pseudo-inflammatory posterior pole dystrophy) and is related to colloid degeneration. In the fifth generation a case of Leber's congenital amaurosis occurs, which is difficult to relate to the late posterior pole dystrophy.
本文描述了一个大家庭，其中出现了一种特殊形式的后极部营养不良，但（除一名21岁患者外）在40岁之前没有症状出现。尽管它通过四代呈显性遗传且外显率很高，但也确实存在轻微症状的病例。该疾病在2至4年内发展，严重情况下中心视力会完全丧失。周边视力得以保留，因此受影响的患者永远不会完全致残或依赖他人。早期或轻微病例可通过血管造影或敏感的功能测试（视网膜电图、视觉诱发电位，可能还有色觉测试）得以早熟检测。快速发展是由于渗出或出血现象。这一观察结果与索斯比所描述的疾病（假炎症性后极部营养不良）相符，并且与胶体变性有关。在第五代中出现了一例莱伯先天性黑矇，这很难与晚期后极部营养不良联系起来。
