Abstract
AbstractInherited retinal diseases (IRDs) are monogenic conditions, almost invariantly transmitted as typical Mendelian traits. However, in contrast to most genetic disorders, always caused by mutations in the same disease‐specific gene, IRDs may originate from DNA defects involving any one of approximately 250 different loci. This unusual feature, combined with an overall reduced clinical prevalence, leads to complicated diagnostic procedures and highlights disease mechanisms that rarely seen in medical genetics. In this lecture, we will discuss our most recent results on the molecular determinants of IRDs, based on the investigation of several genomes from patients and unaffected individuals from various parts of the world. In addition to producing a detailed mutational landscape of these conditions, the analysis of our data provides new and unexpected findings about the clinical and the molecular dynamics of IRDs.
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