Inherited Retinal Disease: Novel Candidate Genes, Genotype–Phenotype Correlations and Inheritance Models

Dear Colleagues,

Knowledge on the genetic defects and molecular mechanisms underlying inherited retinal diseases (IRDs) has steadily grown in the last three decades. Based on comprehensive genotyping studies (e.g., using whole-exome sequencing, WES) we can deduce that the majority of genetic defects can be found in the currently identified ~150 genes implicated in non-syndromic IRDs. The downside of this huge genetic heterogeneity is that we are now facing new challenges to identify the remaining genetic causes. An increasing number of candidate IRD genes is being identified which are mutated in a single patient or family. Due to the large genetic heterogeneity in IRDs, a significant proportion of healthy individuals and IRD cases carry heterozygous variants in one or a few IRD-associated genes. This could be coincidental findings, but also may mean that we are missing ‘second alleles’ because of their location outside the coding segments that are not analyzed using WES. We are beginning to understand the complex interplay between variants in different IRD genes and still need to investigate the nature of modifiers in IRD-associated genes and in other genes, and how they influence the clinical characteristics in patients. Importantly, knowing the genetic defects and molecular mechanisms of disease is not only important for accurate genetic counseling and disease prognosis, but also is necessary to select patients for gradually emerging therapies, many of which are based on knowledge of the mutated gene or genetic variant(s).This issue is not meant to include papers on multifactorial eye diseases, such as age-related macular degeneration, glaucoma or myopia, unless they deal with familial forms of these macular degeneration or glaucoma. We also do not invite paper submissions on therapeutics of IRDs.

Prof. Dr. Frans P.M. Cremers
Guest Editor

Prof. Dr. Camiel J.F. Boon
Dr. Kinga Bujakowska
Dr. Christina Zeitz
Co-Guest Editors

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