Mehta Neet, Ramappa Muralidhar
Academy of Eye Care Education, L V Prasad Eye Institute, Hyderabad, India.
Centre for Rare Eye Diseases and Ocular Genetics, L V Prasad Eye Institute, Hyderabad, India.
Semin Ophthalmol. 2023 Feb;38(2):108-115. doi: 10.1080/08820538.2022.2094713. Epub 2022 Jun 28.
Congenital hereditary endothelial dystrophy (CHED) is a rare, autosomal recessive, monogenic corneal condition with variable expressivity. Often presents in bilateral symmetrical progressive corneal cloudiness that starts in the early infancy. It is characterized by increased corneal thickness, profound corneal edema, and thickening of the Descemet membrane due to endothelial dysfunction. The published literature lacks uniform guidelines for grading corneal cloudiness and management algorithm for CHED cases. This article focuses on applying newer investigational modalities to fine-tune surgical outcomes and more recent CHED management strategies.
This comprehensive literature review was performed based on a search on the PubMed database of relevant CHED articles focusing on those published in the last 7 years. A total of around 70 articles were reviewed, and 17 of them were included in this review. These include systemic reviews, randomized controlled clinical trials, cohort studies, case-controlled studies, and case series.
Corneal cloudiness grading in CHED using subjective and objective methods using Anterior Segment Optical Coherence Tomography (AS-OCT) and densitometry using Scheimpflug imaging can help select appropriate management plan for CHED cases. DSAEK outscores penetrating keratoplasty with much fewer complications and expedites visual recovery, which helps mitigate amblyopia.
Managing cases of CHED has been a challenge due to the dilemma in timing and appropriate surgical method selection and lack of definitive medical or other conservative approaches. Currently, DSAEK has shown favorable results in cases of CHED. However, appropriate staging of CHED and selecting the appropriate management approach appears to play a critical role in managing such cases. Besides these, novel treatment modalities such as nonsteroidal anti-inflammatory agents (NSAIDS) that target restoring water-flux activity in subtype of CHED and gene editing using CRISPR-Cas9 are promising paradigm treatment modalities.
先天性遗传性内皮营养不良（CHED）是一种罕见的常染色体隐性单基因角膜疾病，具有可变表达性。通常表现为双侧对称性进行性角膜混浊，始于婴儿早期。其特征是角膜厚度增加、严重角膜水肿以及由于内皮功能障碍导致的Descemet膜增厚。已发表的文献缺乏关于CHED病例角膜混浊分级的统一指南和管理算法。本文重点介绍应用更新的研究方法来优化手术效果以及最新的CHED管理策略。
本全面的文献综述基于在PubMed数据库中搜索过去7年发表的相关CHED文章进行。共审查了约70篇文章，其中17篇纳入本综述。这些包括系统评价、随机对照临床试验、队列研究、病例对照研究和病例系列。
使用前段光学相干断层扫描（AS - OCT）的主观和客观方法对CHED中的角膜混浊进行分级，以及使用Scheimpflug成像进行密度测量，有助于为CHED病例选择合适的管理方案。Descemet膜剥离内皮角膜移植术（DSAEK）在并发症少得多的情况下优于穿透性角膜移植术，并加快视力恢复，这有助于减轻弱视。
由于在时机和合适手术方法选择上的困境以及缺乏明确的药物或其他保守方法，CHED病例的管理一直是一项挑战。目前，DSAEK在CHED病例中已显示出良好效果。然而，CHED的适当分期和选择合适的管理方法在处理此类病例中似乎起着关键作用。除此之外，针对恢复CHED亚型水通量活性的新型治疗方法，如非甾体抗炎药（NSAIDS）和使用CRISPR - Cas9的基因编辑，是有前景的治疗模式。
