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Genetics and Therapy of Retinal Diseases
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Genetics and Therapy of Retinal Diseases

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Molecular Genetics and Genomics".

Deadline for manuscript submissions: closed (30 June 2025) | Viewed by 938

Special Issue Editor

Dr. Yu Fujinami-Yokokawa

E-Mail Website
Guest Editor
1. UCL Institute of Ophthalmology, University College London, London, UK
2. Laboratory of Visual Physiology, Division of Vision Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan
3. Department of Health Policy and Management, Keio University School of Medicine, Tokyo, Japan
Interests: ophthalmic genetics; inherited retinal diseases; retinal imaging; clinical electrophysiology; application of artificial intelligence; gene therapy

Special Issue Information

Dear Colleagues,

Inherited retinal diseases (IRDs) remain a major cause of vision loss worldwide, critically affecting patients’ quality of life. Recent advances in next-generation sequencing (NGS), along with improvements in ophthalmic imaging and functional assessment, have substantially refined diagnostic precision, illuminated disease mechanisms, and enhanced our ability to track disease progression. Meanwhile, emerging gene-based therapies offer promise for preserving and, in some cases, restoring vision in individuals living with IRDs. Nevertheless, ongoing and upcoming clinical trials emphasize the need for detailed investigations into retinal structure and function, as well as reliable assessment modalities, robust inclusion criteria, prognostic indicators, and clinical endpoints to optimize therapeutic outcomes.

We are pleased to invite you to submit your latest research to this Special Issue of Genes, entitled “Genetics and Therapy of Retinal Diseases”, which highlights novel insights into IRDs and gene-based interventions aimed at halting or reversing vision loss. Submissions may include original research, reviews, communications, or technical notes covering topics such as genetic and molecular mechanisms, NGS-based diagnostics, genotype–phenotype correlations, biomarker development, advanced imaging, functional assessments, and improved outcome measures for clinical trials. By bringing together diverse expertise, we aim to accelerate progress in IRD research and ultimately advance patient care.

Dr. Yu Fujinami-Yokokawa
Guest Editor

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 100 words) can be sent to the Editorial Office for announcement on this website.

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.

Keywords

  • ophthalmic genetics
  • inherited retinal disease
  • genomics
  • molecular biology
  • retinal imaging
  • clinical electrophysiology
  • genotype–phenotype correlation
  • gene therapy
  • clinical trials
  • personalized medicine

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Published Papers (1 paper)

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Research

15 pages, 446 KB  
Article
Minigene Splice Assays Allow Pathogenicity Reclassification of RPE65 Variants of Uncertain Significance
by Daan M. Panneman, Erica G. M. Boonen, Zelia Corradi, Frans P. M. Cremers and Susanne Roosing
Genes 2025, 16(9), 1022; https://doi.org/10.3390/genes16091022 - 28 Aug 2025
Viewed by 678
Abstract
Background/objectives: Obtaining a genetic diagnosis for patients with inherited retinal diseases has become even more important since gene-specific therapies have become available. When genetic screening reveals variants of uncertain significance (VUS), additional evidence is required to determine genetic eligibility for therapy. Confirming the [...] Read more.
Background/objectives: Obtaining a genetic diagnosis for patients with inherited retinal diseases has become even more important since gene-specific therapies have become available. When genetic screening reveals variants of uncertain significance (VUS), additional evidence is required to determine genetic eligibility for therapy. Confirming the effect on splicing that is predicted by SpliceAI could change their classification to either likely pathogenic or pathogenic and would therefore be of great importance when interpreting these variants when geneticists worldwide are trying to reach a diagnosis. Methods: Using minigene assays, we established a pipeline to assess the effect on splicing for all variants. We selected 73 RPE65 variants that were classified as either VUS or likely benign in the RPE65 Leiden Open Variant Database (LOVD) or ClinVar and were predicted to affect splicing by SpliceAI with a delta score of >0.1 and by using an analysis window of 5000 bp up- and downstream of the variant. Results: Using four wild-type vectors, we generated 59 constructs containing the variants of interest. Through these minigene assays, we assessed the effect on splicing of these VUS to enable reclassification. Upon quantification, we identified seven variants with a full, aberrant splicing effect without residual wild-type transcript. Eleven variants had between 5% and 20% remaining wild-type transcript. Forty-one variants had ≥20% residual wild-type transcript, among which fifteen variants showed no effect on splicing. Conclusions: Following the 2023 established ClinGen specific ACMG guidelines for RPE65 (Criteria Specification Registry), evidence from splice assays enabled reclassification of seven RPE65 variants from VUS to pathogenic through an assigned PVS1-very-strong criterium, as less than 5% of wild-type transcript was present. These findings contribute to the interpretation of variants observed in patients, which will in turn dictate their eligibility for gene therapy. Full article
(This article belongs to the Special Issue Genetics and Therapy of Retinal Diseases)
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