EURETINA 2026: How a national registry is mapping inherited retinal disease in Portugal

João Pedro Marques, MD, MSc, PhD, FEBOphth, an ophthalmic genetics and retina specialist from Coimbra, Portugal, spoke at the 26th EURETINA Congress in Vienna about the IRD-PT. The IRD-PT is a clinical and genetic registry developed to map patients with inherited retinal diseases (IRDs) across Portugal.

Building a national registry

The web-based registry collects patients from the several institutions in Portugal that see patients with IRDs. Marques said the registry is fully editable and GDPR-compliant. It launched 7 years ago and has grown to roughly 2,400 patients, which is more than 65% of the expected number of patients with IRDs in the country.

Clinicians log in with their credentials and upload clinical and genetic data. They can also record patient-reported outcomes during a visit, which captures the patient’s perspective on their own disease. The research team then interprets and downloads the data for scientific work.

Research outputs

The registry has supported work in several domains:

• the socioeconomic burden of IRDs
• their genetic architecture
• combining registry data with multimodal imaging and AI platforms to identify genotype from imaging findings

The team also uses patient-reported outcome measures and draws on registry findings to educate patients and clinicians.

In 7 years, the registry has produced 78 research papers and 2 defended PhD theses. Marques named the genetic characterisation of the cohort, which included more than 1,100 families, as the most substantial output. That work showed where patients were located, identified the most common genetic variants and described the genetic architecture of IRDs in Portugal.

The findings led to translational research into EYS, the most frequent cause of retinitis pigmentosa in Portugal. Marques noted that EYS is fairly common worldwide but very common in Portugal. The team received a EURETINA research grant 3 years ago and is now using gene editing techniques to try to correct the most common mutations.

Connecting patients with therapy

The registry is interoperable with other registries. When registries capture the same data, consented patient records can populate international registries. The team hopes to contribute data to the ERN-EYE European registry in the coming years.

Marques emphasised that genetic mapping is central to gene therapy. “If you don’t have genetic testing, if you don’t map your patients, you don’t know which patients to treat,” he said. Because patients are enrolled in the registry, clinicians can search for those with a specific gene and identify who is eligible for clinical trials or newly approved drugs.

He added that raising awareness of these rare diseases, including through EURETINA sessions, can help more clinicians diagnose patients early and help more patients access innovative therapies.