Chauhan Bharesh K, Medsinge Anagha, Scanga Hannah L, Chu Charleen T, Nischal Ken K
UPMC Eye Center, Children's Hospital of Pittsburgh, Pittsburgh, PA 15224, USA.
Department of Ophthalmology, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213, USA.
Mol Genet Metab Rep. 2021 Jan 27;26:100712. doi: 10.1016/j.ymgmr.2021.100712. eCollection 2021 Mar.
Congenital corneal opacities (CCO) are a group of blinding corneal disorders, where the underlying molecular mechanisms are poorly understood. Phenotyping through specialized imaging and histopathology analysis, together with assessment of key transcriptomic changes (including glycosaminoglycan metabolic enzymes) in cornea(s) with CCO from a case of Fanconi anemia is the approach taken in this study to identify causal mechanisms. Based on our findings, we propose a novel mechanism and two key players contributing to CCO.
先天性角膜混浊（CCO）是一组致盲性角膜疾病，其潜在的分子机制尚不清楚。本研究采用的方法是通过专门的成像和组织病理学分析进行表型分析，并评估来自范可尼贫血患者的患有CCO的角膜中的关键转录组变化（包括糖胺聚糖代谢酶），以确定致病机制。基于我们的发现，我们提出了一种导致CCO的新机制和两个关键因素。
