Retina

Retina aggregates clinical and genetic data on inherited retinal dystrophies (IRDs) in Portugal to support research on epidemiology, genomic landscape, and natural history.

Key Features:

• Interoperability: The registry interoperates with other IRD registries and employs standardized coding systems including ICD-9, ICD-10, ICD-11 and Orphanet (ORPHA) codes.
• Gene Annotation: Gene coding is provided using the Ontology of Genes and Genomes and Online Mendelian Inheritance in Man (OMIM).
• Phenotype Coding: Signs and symptoms are coded using the Human Phenotype Ontology (HPO).
• Data Management (IRD-PT integration): The IRD-PT module integrates with the core retina.pt system to capture and manage patient clinical and genetic data specific to IRDs.
• Data Collection: As of April 1, 2020, the registry held finalized data from 537 participants within a broader cohort of over 1,800 individuals and more than 30,000 consultations.
• Data Mining and Decision Support: The registry supports ongoing data mining and facilitates rapid clinical decision-making based on aggregated data.
• Deployment: The IRD-PT module was pre-launched at Centro Hospitalar e Universitário de Coimbra, a national reference center for IRDs in Portugal.

Scientific Applications:

• Real-world data generation: Enables collection of multicenter real-world data for research on inherited retinal dystrophies.
• Epidemiology: Supports studies of IRD epidemiology within the Portuguese population.
• Genomic characterization: Facilitates characterization of the genomic landscape of IRDs through integrated gene coding and genetic data.
• Natural history studies: Enables longitudinal analyses of clinical course and outcomes using aggregated consultation data.
• Collaborative research: Supports formal partnerships and data-sharing among researchers and stakeholders for IRD research.

Methodology:

Uses standardized coding systems (ICD-9/ICD-10/ICD-11, ORPHA), gene annotation from the Ontology of Genes and Genomes and OMIM, phenotype coding with HPO, integration of the IRD-PT module with the core system, multicenter real-world data capture, and ongoing data mining.