Limbal stem cell deficiency (LSCD) is a rare, blinding corneal disease that results from damage or destruction of limbal stem cells and their stem cell niche.

In vivo confocal microscopy and anterior segment optical coherence tomography are important developing diagnostic methods and may add a quantitative measure to the staging and follow-up of LSCD, as well as complementing impression cytology in the diagnosis of LSCD.

Definitive treatment involves transplant of healthy stem cells, and several strategies have been devised over the past two decades, many of which have developed from close collaboration between stem cell translational scientists and ophthalmologists.

In this review we analyse recent advances in the pathology, diagnosis, and treatment of LSCD.