DOMINANT INHERITED TILTED DISK SYNDROME AND LACQUER CRACKS
DOMINANT INHERITED TILTED DISK SYNDROME AND LACQUER CRACKS
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DOI：
10.1038/eye.1990.66
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发表时间：
1990-01-01
期刊：
影响因子：
3.9
通讯作者：
VERBEEK, AM
中科院分区：
文献类型：
--
作者：
BOTTONI, FG;EGGINK, CA;VERBEEK, AM
研究对象为一家系的3例腰椎倾斜综合征患者。该性状在连续三代中的存在提示了一种常染色体显性遗传模式，尽管在这些表达可变的患者中。先证者表现为双侧鼻下视网膜扩张，伴有萎缩性视网膜下瘢痕。从中央疤痕向外辐射的线状漆膜裂缝也与视神经头部边缘平行。这些线状条纹与外伤性S膜撕裂中常见的线状条纹非常相似，扩张区的机械拉伸及其在视盘下方的异常位置可能是我们患者出现异常漆裂图案的原因。
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.