Bottoni F G, Eggink C A, Cruysberg J R, Verbeek A M
Institute of Ophthalmology, University of Nijmegen, The Netherlands.
Eye (Lond). 1990;4 ( Pt 3):504-9. doi: 10.1038/eye.1990.66.
Three patients with the tilted disc syndrome from one family were examined. The presence of the trait in three consecutive generations suggests an autosomal dominant mode of inheritance, although in these patients with variable expression. The propositus showed bilateral inferonasal retinal ectasia, with atrophic subretinal scars. Linear-like lacquer cracks, radiating from the central scars, were also present running parallel to the margin of the optic nerve head. The linear streaks were very similar to those usually seen in traumatic tears of Bruch's membrane. The mechanical stretching of the ectatic area, and its abnormal location inferonasal to the optic disc might have been responsible for the unusual pattern of the lacquer cracks in our patient.
对来自一个家族的3例倾斜盘综合征患者进行了检查。该性状在连续三代人中出现，提示为常染色体显性遗传模式，尽管这些患者存在表达变异。先证者表现为双侧鼻下视网膜扩张，伴有视网膜下萎缩性瘢痕。从中央瘢痕放射状分布的线状漆裂纹也存在，与视神经乳头边缘平行。这些线状条纹与通常在 Bruch 膜外伤性撕裂中看到的条纹非常相似。扩张区域的机械性拉伸及其在视盘鼻下的异常位置可能是导致我们患者中漆裂纹异常模式的原因。
