01.10.2021New insights into Ehlers-Danlos syndrome

Ehlers-Danlos syndrome (EDS) is a genetic disease leading to abnormalities in mechanical properties of different tissues. Corneal thinning, among others, is a common finding in classic type EDS resulting from a mutation in Collagen V. Having a weak cornea can be bad for sight and can ultimately lead to blindness, which is why there are intense research efforts into understanding the disease.

Previously, researchers from the University of Zurich, the ETH Zurich (www.ethz.ch), the University of South Florida, and clinicians from the ELZA Institute, Zurich (www.elza-institute.com), adapted a method for assessing corneal strength for the extra-small eye dimensions of mouse eyes. Now, they added one innovative technique and one advanced imaging method: optical coherence elastography (OCE), and Harmonic Generation (SHG) microscopy, respectively, allowing for non-invasive comparison of the corneal strength in mice with and without a genetic collagen V deficiency.

The complex results obtained in the study support clinical findings in which thin corneas with global ultrastructural alterations maintain a normal corneal shape and might help to develop therapeutic approaches in brittle corneas.

For more information please visit https://www.elza-institute.com/new-insights-into-ehlers-danlos-syndrome/.

The full text of the article is available at https://rdcu.be/cwlU1 (nature.com).