Ricerc@Sapienza

Background: Retinitis pigmentosa (RP) is an inherited degenerative disease causing severe retinal dystrophy and visual impairment mainly with onset in infancy or adolescence.
RP is genetically heterogeneous and the identification of the underlying genetic cause has become particularly important in the era of novel therapeutic options such as gene therapy. The application of next generation sequencing (NGS) through targeted gene panels has become an efficient tool to encounter the enormous genetic heterogeneity of RP.
Methodology: we will perform a retrospective study, collecting and reviewing all the clinical and genetic data of patients affected by RP, followed in the Centre of Retinal Dystrophy of Policlinico Umberto I Hospital from 2008 to present. A genetic consultation and the possibility to have genetic tests will be offered to still genetically uncharacterized patients.
Aim: This multidisciplinary project, involving an ophthalmologist with relevant expertise in this filed and clinical geneticists, will permit to perform an accurate genotype-phenotype correlation for this large cohort of patients. The aim is to possibly disclose previously unknown correlations and to increase knowledge about its pathogenesis. This results will be also useful in the diagnostic iter of RP patients, to prevent possible complications and to offer them the new upcoming targeted therapeutic opportunities.