Abstract：
BACKGROUND: Oculofaciocardiodental (OFCD) syndrome is a rare genetic disorder affecting ocular, facial, dental, and cardiac systems, being an X-linked condition caused by pathogenic variants in the BCL-6 corepressor gene (BCOR). We report a case series of three female patients with OFCD syndrome with severe glaucoma.
RESULTS: Three female patients with OFCD syndrome with different variants involving BCOR gene, in heterozygosity: a seven-years-old girl with an insertion (c.2037_2038dupCT), a nine years-old girl with a microdeletion in the X (p21.2-p11.4)) spanning the BCOR gene; and a 25 years-old female with a deletion (c.3858_3859del). Systemic involvement is variable among patients ranging from one patient mainly with ocular and dental involvement to one with associated intra-auricular and intra-ventricular defects. All the patients presented with congenital cataracts diagnosed in the first days of life. Cataract surgery was performed without incidents between 6 and 16 weeks of age in all the patients. Postoperatively, the three patients developed ocular hypertension and glaucoma with the need for surgical interventions, including trabeculectomy, Ahmed valve implantation, and cyclophotocoagulation.
CONCLUSIONS: OFCD syndrome characterizes by a severe ocular involvement with glaucoma as a characteristic feature. Ocular hypertension after cataract surgery in these patients is challenging, almost always needing surgery during childhood. Therefore, we consider BCOR disruption may predispose to a higher incidence of glaucoma due to its aggressiveness and early onset on our case series. The awareness of these complications is crucial to an adequate follow-up of the patients.
RESULTS: Three female patients with OFCD syndrome with different variants involving BCOR gene, in heterozygosity: a seven-years-old girl with an insertion (c.2037_2038dupCT), a nine years-old girl with a microdeletion in the X (p21.2-p11.4)) spanning the BCOR gene; and a 25 years-old female with a deletion (c.3858_3859del). Systemic involvement is variable among patients ranging from one patient mainly with ocular and dental involvement to one with associated intra-auricular and intra-ventricular defects. All the patients presented with congenital cataracts diagnosed in the first days of life. Cataract surgery was performed without incidents between 6 and 16 weeks of age in all the patients. Postoperatively, the three patients developed ocular hypertension and glaucoma with the need for surgical interventions, including trabeculectomy, Ahmed valve implantation, and cyclophotocoagulation.
CONCLUSIONS: OFCD syndrome characterizes by a severe ocular involvement with glaucoma as a characteristic feature. Ocular hypertension after cataract surgery in these patients is challenging, almost always needing surgery during childhood. Therefore, we consider BCOR disruption may predispose to a higher incidence of glaucoma due to its aggressiveness and early onset on our case series. The awareness of these complications is crucial to an adequate follow-up of the patients.
摘要：
背景：眼面心综合征（OFCD）是一种罕见的遗传性疾病，影响眼，面部,牙科,和心脏系统，是由BCL-6协同抑制基因（BCOR）中的致病性变体引起的X连锁状况。我们报告了三名患有严重青光眼的OFCD综合征女性患者的病例系列。
结果：三名女性OFCD综合征患者，其不同变异涉及BCOR基因，杂合性：一个七岁的女孩插入（c.2037_2038dupCT），一个9岁的女孩，在X（p21.2-p11.4）中具有跨越BCOR基因的微缺失；和一个25岁的女性缺失（c.3858_3859del）。患者的全身受累是可变的，从一名主要患有眼部和牙科受累的患者到一名患有相关耳内和脑室内缺陷的患者。所有患者在出生后的第一天就被诊断出患有先天性白内障。所有患者在6至16周龄之间进行了白内障手术，没有发生任何事件。术后,三名患者出现了高眼压和青光眼，需要手术干预，包括小梁切除术,Ahmed瓣膜植入,和睫状体光凝术。
结论：OFCD综合征的特征是以青光眼为特征的严重眼部受累。这些患者白内障手术后的眼部高血压具有挑战性，童年时几乎总是需要做手术。因此,在我们的病例系列中,由于BCOR的侵袭性和早期发病,我们认为BCOR中断可能导致青光眼发病率较高.对这些并发症的认识对于患者的充分随访至关重要。
结果：三名女性OFCD综合征患者，其不同变异涉及BCOR基因，杂合性：一个七岁的女孩插入（c.2037_2038dupCT），一个9岁的女孩，在X（p21.2-p11.4）中具有跨越BCOR基因的微缺失；和一个25岁的女性缺失（c.3858_3859del）。患者的全身受累是可变的，从一名主要患有眼部和牙科受累的患者到一名患有相关耳内和脑室内缺陷的患者。所有患者在出生后的第一天就被诊断出患有先天性白内障。所有患者在6至16周龄之间进行了白内障手术，没有发生任何事件。术后,三名患者出现了高眼压和青光眼，需要手术干预，包括小梁切除术,Ahmed瓣膜植入,和睫状体光凝术。
结论：OFCD综合征的特征是以青光眼为特征的严重眼部受累。这些患者白内障手术后的眼部高血压具有挑战性，童年时几乎总是需要做手术。因此,在我们的病例系列中,由于BCOR的侵袭性和早期发病,我们认为BCOR中断可能导致青光眼发病率较高.对这些并发症的认识对于患者的充分随访至关重要。
