Steinert Myotonic Dystrophy

By Dr. Carlos Rocha de Lossada / MD PhD

Project aim

Myotonic dystrophy is an autosomal dominant inherited muscle disease that affects approximately 1 in every 8000 people. In some studies the characteristics of the cornea in these patients have been studied to assess whether variations are observed with respect to the healthy population and whether these justify the hypotonia they present.

In other studies, a relationship between myotonic dystrophy and Fuchs’s endothelial corneal dystrophy has been proposed. In our study we are studying the biomechanical and morphological properties of the cornea, as well as the characteristics of the endothelium of patients with myotonic dystrophy. In the current literature there is nothing published about the metagenomics of the ocular surface microbiome of patients with myotonic dystrophy.

Execution

To investigate the myotonic dystrophy associated ocular microbiome we are going to use 25 conjunctival swabs obtained from patients diagnosed with myotonic dystrophy. Written informed consent will be obtained from all patients.

Project Manager
Dr. Carlos Rocha de Lossada / MD PhD

Supervisor
Dr. Borroni Davide / MD PhD

Date
30/11/2021

Funding partners
Eyemetagenomics Ltd