Molecular Genetics of Retinal Dystrophies

Dear Colleagues,

Massive parallel sequencing has completely revolutionized the field of genetic diagnosis in rare diseases, such as inherited retinal dystrophies. Although the information gathered has greatly increased the number of causative genes (now over 300 genes), a considerable number of cases still remain unsolved due to technical limitations. New strategies to unveil “hidden” genetic variants and assign pathogenicity to variants of unknown significance are required to increase the diagnostic yield, pave the way for precision medicine, and inspire effective therapeutic approaches for these severe visual disorders.

This Special Issue focuses on the identification and pathogenic evaluation of novel mutations in known or unreported genes, phenotype-genotype correlations, and functional and NGS strategies for the identification of “hidden mutations” in the genome (e.g., SNVs, deep intronic mutations, and regulatory mutations). We welcome submissions of reviews, research articles, or small focused reviews in IRDs. We also encourage the submission of original papers that present new unreported genes or mutations, functional assays of candidate pathogenic variants in cells and animal models, and new bioinformatics tools to optimize pathogenic assignment.

Prof. Roser Gonzàlez-Duarte
Prof. Gemma Marfany
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 250 words) can be sent to the Editorial Office for assessment.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Genes is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.