脆性角膜综合征(BCS)是一种罕见的结缔组织疾病,具有眼部和全身特征。角膜极度变薄和脆性是BCS的主要标志。
■一名4岁男孩表现为复发性自发性角膜穿孔。他有蓝色巩膜,角膜肉瘤,不规则虹膜,浅前房,角膜散光,和双侧角膜变薄。他还有几个系统特征,包括听力损失,皮肤弹性过度,关节过度活动,脊柱侧弯,和脐疝.通过分子分析证实了BCS的诊断。纯合c.17T>G,在PRDM5基因中鉴定出p.(Val6Gly)变异。
■p.先前在2例BCS患者中报道了PRDM5的(Val6Gly)变异。我们还考虑了PRDM5c.17T>G,p.(Val6Gly)变异为致病性,基于以下特征:人口数据库中缺乏变异,在硅预测中,偏析分析,以及我们病人的临床症状.极其薄而脆的角膜会自发或在轻微创伤后导致角膜穿孔。几乎所有患者都因角膜破裂和疤痕而失去了视力。BCS管理的关键挑战是预防依赖于早期诊断的眼破裂。早期诊断可以及时采取措施防止眼破裂。
UNASSIGNED: Brittle cornea syndrome (BCS) is a rare connective tissue disorder with ocular and systemic features. Extreme corneal thinning and fragility are the main hallmarks of BCS.
UNASSIGNED: A 4-year-old boy presented with recurrent spontaneous corneal perforation. He had blue sclera, corneal leucoma, irregular iris, shallow anterior chamber, corneal astigmatism, and bilateral corneal thinning. He also had several systemic features including hearing loss, skin hyperelasticity, joint hypermobility, scoliosis, and umbilical hernia. A diagnosis of BCS was confirmed with molecular analysis. A homozygous c.17T>G, p.(Val6Gly) variation was identified in the PRDM5 gene.
UNASSIGNED: p.(Val6Gly) variation in PRDM5 was previously reported in 2 patients with BCS. We also considered PRDM5 c.17T>G, p.(Val6Gly) variation as pathogenic based on the following features: the absence of the variation in population databases, in silico predictions, segregation analysis, and clinical signs of our patient. Extremely thin and brittle corneas lead to corneal perforation spontaneously or after minor trauma. Nearly all patients have lost their vision because of corneal rupture and scars. The key challenge in the management of BCS is the prevention of ocular rupture which relies on early diagnosis. Early diagnosis allows for taking prompt measures to prevent ocular rupture.