背景:Knobloch综合征(KNO,OMIM#267,750)是一种罕见的纤毛病组综合征,其特征是胶原蛋白合成障碍。它代表了小儿视网膜脱离的不常见原因。该报告提供了两个具有不同COL18A1基因突变的病例,并发视网膜脱离.
方法:两例均表现为高度近视和不同程度的枕骨缺损。第一个案例,一个女性,患有双侧先天性视网膜脱离,后胚毒素,和斜视.第二种情况,一个男性,有单侧先天性视网膜脱离和神经运动发育迟缓。第一个案例,在生命的最初几个月被诊断出来,成功行视网膜复位手术。然而,第二例未进行手术,表现为晚期单侧视网膜脱离和视力前病变。
结论:该报告描述了两名患有Knobloch综合征的患者,其中一人对双眼视网膜脱离的手术反应良好。通过早期手术干预,成功的解剖学结果得以实现。必须认识到KNO内的表型和遗传异质性。
BACKGROUND: Knobloch syndrome (KNO, OMIM # 267,750) is a rare ciliopathy group sydrome characterized by a collagen synthesis disorder. It represents an uncommon cause of pediatric retinal detachment. This report presents two cases with different COL18A1 gene mutations, complicated by retinal detachment.
METHODS: Both cases exhibited high myopia and various degrees of occipital skull defect. The first
case, a female, had bilateral congenital retinal detachment, posterior embryotoxon, and strabismus. The second
case, a male, had unilateral congenital retinal detachment and neuromotor developmental delay. The first
case, diagnosed in the early months of life, underwent successful retinal reattachment surgery. However, surgery was not performed on the second
case, who presented with late-stage unilateral retinal detachment and pre-phthisis.
CONCLUSIONS: The report describes two patients with Knobloch syndrome, one of whom responded favorably to surgery for retinal detachment in both eyes. Successful anatomical results were achieved with early surgical interventions. It is essential to recognize the phenotypic and genetic heterogeneity within KNO.