Rare retinal disease: Swiss Visio published in JAMA Ophthalmology

The team at the Swiss Visio Retina Research Centre, led by Dr Aude Ambresin, has published its research in JAMA Ophthalmology, one of the leading journals in ophthalmology. The article by Dr Mihaela Chitoroaga, Ms Daniela Gallo Castro and Dr Aude Ambresin focuses on branchio-oculo-facial syndrome, a very rare genetic disorder that primarily affects the face and eyes.

In it, the team describes a retinal condition that has so far been poorly documented in this syndrome: progressive retinoschisis, i.e. a separation of the layers of the retina that can threaten central vision. The findings highlight the importance of regular monitoring using high-precision imaging and open up new avenues for the management of these rare conditions.

When it comes to rare diseases, every published observation counts: it helps specialists worldwide to better recognise and monitor these conditions. This publication is part of Swiss Visio’s long-standing commitment to clinical research in ophthalmology, which Dr Aude Ambresin leads as the centre’s director.

Link to the article: https://doi.org/10.1001/jamaophthalmol.2026.4207