Stefani F H, Schramm W
Klin Monbl Augenheilkd. 1975 Oct;167(4):608-12.
Four young and healthy adults with tortuosity of the retinal arterioles of the posterior pole and recurring superficial retinal haemorrhages are described. Two of them had a suspected mild thrombocytopathy without clinical manifestations in other organs. Inheritance of the syndrome was not demonstrated and the pathogenic mechanism still remains obscure. All the described patients had been at risk of a retinopathy of praematurity. Knowing that familial retinal haemorrhages without retinal tortuosity do occur and retinal tortusity may persist as a minimal change of retinopathy of praematurity, it is suggested that this syndrome might be a combination of two entities.
本文描述了4名年轻健康的成年人,他们存在后极部视网膜小动脉迂曲以及反复出现的视网膜浅层出血。其中2人疑似患有轻度血小板病,但其他器官无临床表现。该综合征的遗传情况未得到证实,发病机制仍不清楚。所有描述的患者都有早产视网膜病变的风险。鉴于无视网膜迂曲的家族性视网膜出血确实存在,且视网膜迂曲可能作为早产视网膜病变的一种微小变化持续存在,故提示该综合征可能是两种情况的组合。