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Research Bulletin

A Comprehensive Review of Corneal Dystrophies

Some of the world’s top Corneal specialists from Kyoto Prefectural University of Medicine, Harvard Medical School, Louisiana State University, Netherlands Institute for Innovative Ocular Surgery (NIIOS), Stein Eye Institute, Schepens Eye Research Institute, Singapore Eye Research Institute and Singapore National Eye Centre have come together to publish a comprehensive review about the aetiology of Corneal Dystrophies in the Nature Reviews Disease Primer journal.

Corneal dystrophies are rare, inherited disorders that usually affect both the eyes wherein abnormal material gets accumulated in one of the transparent layers in the front of our eye called cornea. They gradually worsen over time and depending on the severity, can cause significant vision impairment.

The cornea comprises of five layers namely, the Epithelium, Bowman’s layer, Stroma, Descemet membrane and Endothelium. Corneal dystrophies are classified into four major types depending on which of these layers get affected and the underlying genetic causes namely Epithelial and Subepithelial dystrophies (mutations in TGFB1, KRT3 etc); Epithelial-stromal TGFB1 dystrophies (mutations in TGFB1), stromal dystrophies (mutations in PIKFYVE, STS etc.) and endothelial dystrophies (Mutations in TCF4, ZEB1).

Treatment methodologies vary depending on the severity, patient’s parameters and may involve simple pharmacological agents like optical lubricants to corneal transplantation in severe cases. Apart from these conventional treatment modalities, some novel therapeutics strategies such as cell augmentation therapies, regenerative therapy and gene therapy, etc., are being developed for the treatment of endothelial dystrophies.

To read more, refer to the article:
Soh, Y.Q., Kocaba, V., Weiss, J.S. et al. Corneal dystrophies. Nat Rev Dis Primers 6, 46 (2020).

Pictures of eye showing epithelial and subepithelial dystrophies