Novel Proposed Algorithm in Congenital Hereditary Endothelial Dystrophy

Purpose: 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.

Methods: 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.

Results: 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.

Conclusion: 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.