Inherited Retinal Diseases: How Can We Move Forward in Understanding and Treating Them 3.0

Dear Colleagues,

The past decades have seen significant developments in inherited retinal diseases (IRD), with the advent of next-generation sequencing, as well as innovative therapies. Nevertheless, despite this progress, the genetic defect is still missing in about 30% of non-syndromic IRD, even with comprehensive testing, including classical linkage analyses, positional cloning, candidate gene, and Sanger sequencing approaches or, more recently, targeted next-generation sequencing, whole exome (WES), or whole genome sequencing (WGS). In these cases, mutations may be located in novel genes, in untranslated exonic or intronic regions, or may represent genomic rearrangements overlooked with commonly used sequencing methods. The bottleneck to filling in the knowledge gap is replicating findings in large cohorts and developing relevant and rapid tests to validate the pathogenicity of newly identified variants, especially for those in regulatory regions. In the future, efforts should be made to identify these missing defects, to provide accurate genetic counseling and disease prognosis, and to prepare patients for therapeutic trials, but also to improve our basic understanding of retinal physiology.

As Volumes 1 and 2 of the Special Issue “Inherited Retinal Diseases: How Can We Move Forward in Understanding and Treating Them” were incredibly successful, we will be exploring this issue further in the International Journal of Molecular Sciences (ISSN 1422-0067, IF 5.924, JCR Category Q1). In this third Special Issue, we welcome original research or review articles related to gene identification, functional studies to validate pathogenic mechanisms, and comprehensive phenotype–genotype correlations underlying inherited retina disorders.

For more information:
https://www.mdpi.com/journal/ijms/special_issues/inherited_retinal_disease_genetics
https://www.mdpi.com/journal/ijms/special_issues/Inherited_Retinal_Diseases

Prof. Dr. Isabelle Audo
Dr. Christina Zeitz
Guest Editors

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