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Rieger氏症候群于国内少见。本文报道首都医院遇见之3例,表现为青光眼伴有上颌及牙齿畸形,2例因青光眼致盲。由于青光眼系本病主要致盲原因,故对本病应注意眼压变化。本文对本病遗传方式及临床特征作了简介。作者根据文献认为本病系中胚层前部畸形,70%为直系显性遗传,具95%外显率且临床表现各异。作者同意本病为显性基因突变所致。
Rieger’s syndrome is uncommon in China. This article reports the Capital Hospital met three cases, manifested as glaucoma with maxillary and dental malformations, 2 cases of glaucoma due to blindness. Glaucoma due to the main cause of the disease caused by the disease, so the disease should pay attention to changes in intraocular pressure. This article describes the genetic mode and clinical features of the disease. According to the literature, the author believes that the disease is mesodermal anterior deformity, 70% of which is a direct line of dominant inheritance, with 95% penetrance and clinical manifestations. The authors agree that the disease is caused by a dominant gene mutation.