Fuchs endothelial corneal dystrophy: current treatment recommendations and experimental surgical options

Abstract

Fuchs endothelial corneal dystrophy is a common disorder characterized by the progressive thickening of Descemet membrane (DM), manifesting as guttae and leading to a decrease in endothelial cells and corneal clearance. Numerous studies have tried to better characterize the genetics of Fuchs endothelial corneal dystrophy, and suggest that it is a complex heterogenic disorder with an array of variants in severity and disease progression. Currently the most effective treatment for replacing diseased endothelium is endothelial keratoplasty (EK). In the last decade, EK has evolved into selective transplantation of an isolated DM and its endothelium, referred to as Descemet membrane endothelial keratoplasty (DMEK), which enables near normal anatomical and visual outcomes after surgery. Unexpected observations after DMEK, however, may bring new insights on endothelial cell wound healing, potentially allowing novel ‘non-keratoplasty’ surgical approaches like Descemet membrane endothelial transfer, endothelial cell injection techniques or even only a descemetorhexis as alternatives for selected cases.

Keywords:

• Descemet membrane endothelial keratoplasty
• Descemet membrane endothelial transfer
• Descemet stripping endothelial keratoplasty
• endothelial cells
• endothelial keratoplasty
• Fuchs endothelial corneal dystrophy
• genetics

Financial & competing interests disclosure

G Melles is a consultant for DORC International/Dutch Ophthalmic USA and SurgiCube International. The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.

Key issues

• Fuchs endothelial corneal dystrophy (FECD) is one of the most common indications for corneal transplantation worldwide.

• Endothelial keratoplasty (EK), that is DSEK/DSAEK and DMEK, is currently the treatment of choice for FECD, with considerably better visual and refractive outcomes and lower complication rates compared to penetrating keratoplasty.

• The introduction of standardized ‘no-touch’ techniques for donor preparation and surgical insertion in Descemet membrane endothelial keratoplasty has shortened its learning curve allowing the spread of the technique by corneal surgeons worldwide.

• Although Descemet membrane endothelial transfer (DMET) or a descemetorhexis-only could represent a simplification of EK, postoperative outcomes are still unsatisfactory compared to EK, and future studies may better define if particular FECD types could benefit from these procedures.

• Further studies are required in order to prove the efficacy and reproducibility of cultured human endothelial cells and ROCK inhibitor eye drops in humans.

• FECD has a complex genetically heterogeneous background, probably representing different genetic diseases with a similar phenotypic outcome. No common mutations for every cohort of patients have been reported yet.

• Polymorphisms and trinucleotide repeats in TCF4 (transcription factor 4) have been associated with a high-risk profile of developing FECD. Several FECD loci (FCD1-FCD4) which might explain different phenotypes of the disease have been identified.

• In most cases, FECD is not associated with a specific genetic mutation, but may rather be sporadic due to an impaired defense to environmental factors such as oxidative stress.

• A better understanding on the genetics and pathogenesis of FECD may devise different subtypes of FECD aiding treatment recommendations.

Notes