Dr Esther Pomares
Dr Marina Riera (Department of Genetics) and Dr AnnikenBurés, Dr Borja Corcóstegui and Dr Rafael Navarro (Department of Retina and Vitreous)
Retinal dystrophies (RD) are a heterogeneous group of hereditary diseases that are characterised by the degenerative effect that they have on the photoreceptors and cells of the retinal pigment epithelium. They are one of the leading causes of blindness in adults and affect approximately 1 in 3,000 people. These diseases have a high degree of clinical overlap, with very subtle differences between some diseases; high genetic heterogeneity, with more than 200 causal genes; and high phenotypic heterogeneity, as many of these genes are associated with more than one retinal dystrophy.
Despite the high number of genes that can cause RD, they do not explain all of the cases and, in fact, it is estimated that 30-40% of families carry mutations in as yet unidentified genes. This high heterogeneity makes the genetic analysis of RD extremely complicated, as it cannot be carried out using conventional methodological strategies. For all of these reasons, the main objective of this project is to design a new diagnostic tool using the latest mass sequencing technologies to identify new genes and causal mutations of the different types of retinal dystrophy and to establish new genotype-phenotype correlations