PDF(Pubmed)
Abstract：
OBJECTIVE: We report two siblings with genetically confirmed Walker-Warburg syndrome (WWS), studied with multimodal imaging, who presented with different retinal manifestations.
METHODS: This is a retrospective report of two WWS cases with ultra-widefield fundus photography, fluorescein angiography, and ultrasound. Molecular diagnosis was achieved using panel testing and targeted variant testing.
RESULTS: Two siblings, one male and one female, born 17 months apart with a diagnosis of WWS underwent retinal examination with imaging. The 3-month-old female infant exhibited microphthalmia, persistent hyaloidal arteries, and retrolental membranes with total tractional retinal detachments on ultrasound in both eyes. The 22-day-old male newborn exhibited persistent hyaloidal arteries and extensive peripheral avascular retina on angiography in both eyes. Both were found to be positive for the same two pathogenic variants in the RXYLT1/TMEM5 gene, which accounts for approximately 9% of cases of genetically confirmed WWS.
CONCLUSIONS: Siblings with genetically confirmed WWS can have variable presentations despite identical genotype. This highlights the phenotypic disease spectrum of WWS, which may be similar to that seen in familial exudative vitreoretinopathy.
METHODS: This is a retrospective report of two WWS cases with ultra-widefield fundus photography, fluorescein angiography, and ultrasound. Molecular diagnosis was achieved using panel testing and targeted variant testing.
RESULTS: Two siblings, one male and one female, born 17 months apart with a diagnosis of WWS underwent retinal examination with imaging. The 3-month-old female infant exhibited microphthalmia, persistent hyaloidal arteries, and retrolental membranes with total tractional retinal detachments on ultrasound in both eyes. The 22-day-old male newborn exhibited persistent hyaloidal arteries and extensive peripheral avascular retina on angiography in both eyes. Both were found to be positive for the same two pathogenic variants in the RXYLT1/TMEM5 gene, which accounts for approximately 9% of cases of genetically confirmed WWS.
CONCLUSIONS: Siblings with genetically confirmed WWS can have variable presentations despite identical genotype. This highlights the phenotypic disease spectrum of WWS, which may be similar to that seen in familial exudative vitreoretinopathy.
摘要：
目标：我们报告了两名患有遗传证实的Walker-Warburg综合征（WWS）的兄弟姐妹，用多模态成像研究，表现出不同的视网膜表现。
方法：这是两例WWS超宽视野眼底摄影的回顾性报告，荧光素血管造影,和超声波。使用小组测试和靶向变体测试实现分子诊断。
结果：两个兄弟姐妹，一男一女,相隔17个月出生，诊断为WWS，接受了影像学检查的视网膜检查。3个月大的女孩表现出小眼症，持续性的透明动脉，和双眼超声检查显示全牵引视网膜脱离的后膜。这个22天大的男孩在双眼血管造影中均表现出持续性的透明动脉和广泛的外周无血管视网膜。发现两者对RXYLT-1/TMEM5基因中相同的两种致病变体均为阳性，约占遗传证实的WWS病例的9%。
结论：具有遗传证实的WWS的兄弟姐妹尽管基因型相同，但在兄弟姐妹之间可以有不同的表现。这突出了表型疾病谱，可能与家族性渗出性玻璃体视网膜病变（FEVR）相似。
方法：这是两例WWS超宽视野眼底摄影的回顾性报告，荧光素血管造影,和超声波。使用小组测试和靶向变体测试实现分子诊断。
结果：两个兄弟姐妹，一男一女,相隔17个月出生，诊断为WWS，接受了影像学检查的视网膜检查。3个月大的女孩表现出小眼症，持续性的透明动脉，和双眼超声检查显示全牵引视网膜脱离的后膜。这个22天大的男孩在双眼血管造影中均表现出持续性的透明动脉和广泛的外周无血管视网膜。发现两者对RXYLT-1/TMEM5基因中相同的两种致病变体均为阳性，约占遗传证实的WWS病例的9%。
结论：具有遗传证实的WWS的兄弟姐妹尽管基因型相同，但在兄弟姐妹之间可以有不同的表现。这突出了表型疾病谱，可能与家族性渗出性玻璃体视网膜病变（FEVR）相似。
