Observational study

In this study, we collect small samples such as blood, tear fluid, and surface eye cells. We analyse these to study proteins, genes, and other biological markers linked to these rare diseases. In addition, we record clinical parameters to check their correlation with the biological markers and check if there is a difference between people that have these REDs and those that do not.

Most rare eye diseases do not receive enough research funding and are not well understood, and current treatment options are limited. This study is a critical step toward changing that. By observing samples and data from people who have these REDS and those that do not we hope to uncover what’s really happening at a biological level. The more we understand about what causes these conditions, the closer we get to finding effective ways to slow, stop, or even treat these conditions.

• Adults (18+) diagnosed with one of the seven conditions above
• You can still take part if you have other conditions like myopia, as long as you meet the study criteria.
• For the control population we are looking for adults (18+) who have not been diagnosed with one of the seven conditions above

• Are pregnant or breastfeeding
• Have an active eye infection or corneal perforation
• Had eye surgery in the last 3 months
• Changed your eye medication in the last month

If you take part, you’ll receive a free, full eye examination, followed by:

1. A blood sample (no fasting needed)
2. Tear collection using a small sponge under your eyelid
3. A gentle eye surface test using a soft membrane for about 20 seconds (impression cytology)
4. A short interview about your medical history and general health

The visit will last a couple of hours. More details are available in the individual study leaflets.

Please note: This study does not involve treatment – it is for research purposes only.

You can take part at one of our clinical sites:

• Italy – Ospedale San Raffaele (OSR), Milan
  Contact: Silvia Palombella – palombella.silvia@hsr.it
• France – INSERM (INS), Paris (starting soon)
• Germany – University of Cologne (UKK) Contact Augenklinik Studien – augenklinik-studien@uk-koeln.de

All samples and personal information are:

• Handled confidentially and securely. All personal data will be pseudonymised — meaning your identity will be protected by a code, and data will not be directly linked to you.

• Used only for research within the Restore Vision project
• Securely stored in the OSR biobank
• Analysed at OSR’s lab and

We follow shared research protocols to ensure safety, high-quality data, and patient protection.