Hereditary retinal dystrophies are progressive genetic diseases that affect the retina and are one of the main causes of blindness in working age, with a profound impact on patients and their families.

The new episode of OftalmoGPS, directed by Dr. Sérgio Estrela Silva, delves into the most important questions about the role of genetic tests in the approach to these pathologies: when they are indicated, how they are carried out and how they can change clinical follow-up and therapeutic options.

With the contribution of Dr. João Pedro Marques, renowned for his experience in ocular genetics, the episode explains in simple terms why genetic testing is now an essential "compass" in the journey of patients with retinal dystrophies.

Topics such as warning signs, practical indications for the test and the impact on prognosis are covered in a direct and accessible way, with both health professionals and the general public in mind.

In our regular InFocus section, we bring you the article Marta, A., Marques-Couto, P., Vaz-Pereira, S. et al. Clinical and genetic landscape of IRD in Portugal: pooled data from the nationwide IRD-PT registry. npj Genom. Med. 10, 11 (2025). https://doi.org/10.1038/s41525-025-00475-7 presenting the largest national study on hereditary retinal diseases (IRD) in Portugal.