Inherited Retinal Dystrophies: Genetic Basis, Genetic Diagnosis and Therapy
A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Molecular Genetics and Genomics".
Deadline for manuscript submissions: closed (10 October 2025) | Viewed by 215
Special Issue Editor
Special Issue Information
Dear Colleagues,
Inherited retinal degenerative diseases (IRDs) are a diverse group of genetic disorders that lead to progressive vision loss and, in many cases, blindness. These conditions, including retinitis pigmentosa, Stargardt disease, and Leber congenital amaurosis, are caused by mutations in more than 270 identified genes affecting photoreceptor cells and the retinal pigment epithelium. Recent advances in next-generation sequencing, genome-wide association studies, and functional genomics have significantly enhanced our understanding of IRD pathogenesis. Novel gene discoveries continue to refine diagnostic approaches, enabling earlier and more precise genetic testing.
This Special Issue of Genes highlights the latest research in IRD genetics, covering emerging disease mechanisms, new gene discoveries, innovative diagnostic tools, and advancements in precision medicine.
The history of these diseases began in the 19th century, with early clinical descriptions of retinitis pigmentosa (RP) and other IRDs by ophthalmologists like Albrecht von Graefe (1857) and Frans Cornelis Donders (1869). Research in CRISPR, stem cells, and retinal implants continues to revolutionize treatment possibilities.
Recent advancements in the field of inherited retinal dystrophies (IRDs) have led to groundbreaking treatments that offer hope for individuals affected by these genetic conditions. Additionally, breakthroughs in gene therapy, genome editing (e.g., CRISPR-Cas9), and RNA-based therapies are paving the way for targeted treatments, some of which have already reached clinical application.
We welcome original research articles, reviews, and perspectives from experts in genetics, molecular biology, and ophthalmology. We invite you to contribute to this Special Issue and share your findings to further advance the field of inherited retinal diseases.
Prof. Dr. Dalia Žaliuniene
Guest Editor
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Keywords
inherited retinal diseases (IRDs);
genetic mutations;
next-generation sequencing (NGS);
gene therapy;
genome editing (CRISPR-Cas9);
RNA-based therapies;
molecular diagnostics;
precision medicine;
photoreceptor degeneration
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