Creating a guideline for clinicians who treat eye symptoms in EB

• Primary Researcher: Dr Michael Baertschi
• Institution: Eyeness AG, Switzerland
• Type of EB: All EB types
• Funding amount: €11,276
• Project length: 2.5 years

Due in 2024

Dr. Michael Baertschi is a Swiss optometrist and entrepreneur. He earned his Eidg. dipl. Augenoptiker from SHFA, Olten in 1991, followed by a Master of Science in Clinical Optometry from Pennsylvania College of Optometry, USA in 1997. He obtained a Master of Medical Education from the University of Bern in 2001 and a Doctor of Philosophy in Biomedicine from SALUS University, USA in 2015.

With over three decades of experience, Dr. Baertschi has worked as an optometrist, contact lens specialist, and educator at various institutions, including Kontaktlinsenstudio Baertschi in Bern and the University-Eyeclinic Basel. He is the CEO and Chairman of the Board at Eyeness AG in Bern.

Dr. Baertschi has been involved in research and development, collaborating with various companies in the optometry and ophthalmology field, such as FALCO Kontaktlinsen, BOSTON Polymer Technology, and JOHNSON & JOHNSON Medical. He is also a member of several professional associations, including the Swiss Academy of Ophthalmology and the American Academy of Optometry.

Grant title: Eye care for children and adults with Epidermolysis Bullosa: Evidence-based guideline

The extreme skin is fragile nature of Epidermolysis bullosa (EB), can also affect the eye layers. Eye problems for people living with EB may vary to any degree, where it is commoner in junctional and dystrophic types of EB, but more in their more severe forms, than in EB simplex. They are prone to corneal blisters or erosions due to the loosing of the skin cell layer bindings which are vital for corneal epithelium (this is the transparent layer on the surface of the eye cornea) [Fig 1]. This recurrent ocular surface lesions and erosions result in severe eye pain, light sensitivity, vision fluctuations, tearing, blepharospasm which leads to chronic inflammation and severe infection risks to the cornea and the adjunct conjunctiva. In chronic cases sight threatening scarring occurs leading very often to partial or, in very severe cases, to complete blindness.

Figure 1 – Cross-section diagram of a human eye

Debra International identified this priority need for the development of a clinical practice guideline on eye care of EB since 2016. Furthermore, corneal erosionsis is one of a number of emergency situations may occur in the context of EB (Mellerio et al. 2020). In addition they recognised that whilst general management principles may apply, specific considerations are essential in managing EB to avoid undue trauma or damage to delicate tissues (Mellerio et al. 2020).

Fortunately, a variety of established clinical therapeutic options are available depending on the individual degree of the severity.

Clinical practice guidelines will help practitioners around the world to diagnose the severity, to evaluate the actual need for interventions and to choose from the most appropriate options for therapy.

Due in 2024