PDF(Pubmed)
Abstract：
UNASSIGNED: To report the clinical, tomographic, histopathological and genetic findings of a patient with brittle cornea syndrome and a novel mutation in the ZNF469 gene likely implicated in the development of this disorder.
UNASSIGNED: A 64-year-old man presented with a two-year history of worsening vision in both eyes. The patient and his son were examined by imaging and genetic analysis.
UNASSIGNED: The patient exhibited persistent ocular irritation, decreased vision, corneal epithelial defects and corneal stromal opacity. Confocal microscopy revealed that the anterior corneal stroma had a large amount of highly reflective and striated tissue. However, his son had no symptoms. Genetic analysis identified a heterozygous c.1781C > T:p.P594L variation in the ZNF469 gene.
UNASSIGNED: We reported a novel mutation in the ZNF469 gene (c.1781C > T:p.P594L) in a patient with brittle cornea syndrome from China, which enriched the spectrum of ZNF469 variants implicated in brittle cornea syndrome.
UNASSIGNED: A 64-year-old man presented with a two-year history of worsening vision in both eyes. The patient and his son were examined by imaging and genetic analysis.
UNASSIGNED: The patient exhibited persistent ocular irritation, decreased vision, corneal epithelial defects and corneal stromal opacity. Confocal microscopy revealed that the anterior corneal stroma had a large amount of highly reflective and striated tissue. However, his son had no symptoms. Genetic analysis identified a heterozygous c.1781C > T:p.P594L variation in the ZNF469 gene.
UNASSIGNED: We reported a novel mutation in the ZNF469 gene (c.1781C > T:p.P594L) in a patient with brittle cornea syndrome from China, which enriched the spectrum of ZNF469 variants implicated in brittle cornea syndrome.
摘要：
■报告临床，层析成像,1例脆性角膜综合征患者的组织病理学和遗传学发现以及ZNF469基因的新突变可能与该疾病的发展有关。
■一名64岁的男子，有两年的双眼视力恶化史。通过影像学和遗传分析对患者及其儿子进行了检查。
■患者表现出持续性眼部刺激,视力下降,角膜上皮缺损和角膜基质混浊。共聚焦显微镜显示，角膜前基质有大量的高反射和条纹组织。然而,他的儿子没有任何症状。遗传分析确定了杂合c.1781C>T：p。ZNF469基因中的P594L变异。
■我们报道了ZNF469基因的新突变（c.1781C>T：p。P594L）在中国患有脆性角膜综合征的患者中，这丰富了与脆性角膜综合征有关的ZNF469变体的光谱。
■一名64岁的男子，有两年的双眼视力恶化史。通过影像学和遗传分析对患者及其儿子进行了检查。
■患者表现出持续性眼部刺激,视力下降,角膜上皮缺损和角膜基质混浊。共聚焦显微镜显示，角膜前基质有大量的高反射和条纹组织。然而,他的儿子没有任何症状。遗传分析确定了杂合c.1781C>T：p。ZNF469基因中的P594L变异。
■我们报道了ZNF469基因的新突变（c.1781C>T：p。P594L）在中国患有脆性角膜综合征的患者中，这丰富了与脆性角膜综合征有关的ZNF469变体的光谱。
