Genetic landscape of inherited retinal dystrophies affected cases in Spain

Study ID Alternative Stable ID Type
EGAS00001005104 Other

Study Description

Inherited retinal diseases (IRDs), defined by dysfunction or progressive loss of photoreceptors, are disorders characterized by elevated heterogeneity, both at the clinical and genetic levels. Our main goal was to address the genetic landscape of IRD in a Spanish cohort of patients. A retrospective hospital-based cross-sectional study was carried out on IRD affected individuals, referred for genetic testing from all the Spanish autonomous communities. Clinical, demographic and familiar data were collected from each patient, including family pedigree, age of appearance of visual symptoms, presence of any systemic findings and geographical origin. Genetic studies were performed to all families with available DNA using different molecular techniques. Our study provides the general landscape for IRD in Spain and our results have important implications for genetic diagnosis, counselling and new therapeutic strategies to both the Spanish population and other related populations.

Study Datasets 1 dataset.

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Dataset ID Description Technology Samples
In the context of research, this dataset contains 423 IRD samples; 411 of them analyzed with Clinical Exome Sequencing solutions, and 12 with Whole Exome Sequencing.
NextSeq 500 423

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