PDF(Pubmed)
Abstract：
UNASSIGNED: To report a case of oculo-facio-cardio-dental (OFCD) syndrome secondary to a novel BCOR variant in a pediatric patient with congenital cataracts, microphthalmia, persistent fetal vasculature (PFV), focal chorioretinal hyperpigmentation, peripheral retinal avascularity, and foveal photoreceptor atrophy.
UNASSIGNED: A 3-month-old female patient was referred for bilateral congenital cataracts with microphthalmia. Her past medical history was significant for syndactyly of the toes, left bifid rib, atrial septal defect, patent ductus arteriosus, mitral regurgitation, pulmonary hypertension, anemia of prematurity, vesicoureteral reflux, and duodenal atresia. Examination under anesthesia revealed persistent fetal vasculature (PFV) with peripheral avascularity, foveal photoreceptor atrophy, and focal chorioretinal hyperpigmentation. A bilateral lensectomy with anterior vitrectomy and posterior capsulotomy were performed. Genetic testing identified a novel heterozygous pathogenic variant in the BCOR gene (c.1612C > T (p.Gln538Ter)), confirming a diagnosis of OFCD syndrome.
UNASSIGNED: This case describes novel posterior segment findings in a patient with OFCD. A detailed examination of both anterior and posterior segments in combination with multimodal imaging should be performed in patients suspected of having OFCD, as this may be critical in determining visual potential and appropriate surgical management.
UNASSIGNED: A 3-month-old female patient was referred for bilateral congenital cataracts with microphthalmia. Her past medical history was significant for syndactyly of the toes, left bifid rib, atrial septal defect, patent ductus arteriosus, mitral regurgitation, pulmonary hypertension, anemia of prematurity, vesicoureteral reflux, and duodenal atresia. Examination under anesthesia revealed persistent fetal vasculature (PFV) with peripheral avascularity, foveal photoreceptor atrophy, and focal chorioretinal hyperpigmentation. A bilateral lensectomy with anterior vitrectomy and posterior capsulotomy were performed. Genetic testing identified a novel heterozygous pathogenic variant in the BCOR gene (c.1612C > T (p.Gln538Ter)), confirming a diagnosis of OFCD syndrome.
UNASSIGNED: This case describes novel posterior segment findings in a patient with OFCD. A detailed examination of both anterior and posterior segments in combination with multimodal imaging should be performed in patients suspected of having OFCD, as this may be critical in determining visual potential and appropriate surgical management.
摘要：
■报告一例先天性白内障儿科患者继发于新型BCOR变种的眼-面-心-牙（OFCD）综合征，小眼症,持续性胎儿脉管系统（PFV），局灶性脉络膜视网膜色素沉着,周边视网膜无血管，和中央凹光感受器萎缩。
■一名3个月大的女性患者因双侧先天性白内障伴小眼症转诊。她过去的病史对脚趾的结合很重要，左两裂肋骨,房间隔缺损,动脉导管未闭,二尖瓣反流,肺动脉高压,早产儿贫血,膀胱输尿管反流,十二指肠闭锁.麻醉下的检查显示持续的胎儿脉管系统（PFV）伴有周围血管无，中央凹光感受器萎缩,和局灶性脉络膜视网膜色素沉着.进行了双侧晶状体切除术，包括前部玻璃体切除术和后部囊切开术。遗传测试在BCOR基因中鉴定出一种新的杂合致病变异（c.1612C>T（p。Gln538Ter)),确认OFCD综合征的诊断。
■该病例描述了OFCD患者的后段新发现。对于怀疑患有OFCD的患者，应结合多模态成像对前段和后段进行详细检查。因为这对于确定视觉潜能和适当的手术管理可能至关重要。
■一名3个月大的女性患者因双侧先天性白内障伴小眼症转诊。她过去的病史对脚趾的结合很重要，左两裂肋骨,房间隔缺损,动脉导管未闭,二尖瓣反流,肺动脉高压,早产儿贫血,膀胱输尿管反流,十二指肠闭锁.麻醉下的检查显示持续的胎儿脉管系统（PFV）伴有周围血管无，中央凹光感受器萎缩,和局灶性脉络膜视网膜色素沉着.进行了双侧晶状体切除术，包括前部玻璃体切除术和后部囊切开术。遗传测试在BCOR基因中鉴定出一种新的杂合致病变异（c.1612C>T（p。Gln538Ter)),确认OFCD综合征的诊断。
■该病例描述了OFCD患者的后段新发现。对于怀疑患有OFCD的患者，应结合多模态成像对前段和后段进行详细检查。因为这对于确定视觉潜能和适当的手术管理可能至关重要。
