The Genetic Lens: A New Era in Ophthalmology

Dear Colleagues,

The advent of genomic medicine has fundamentally reshaped the landscape of ophthalmology, allowing for the development of innovative protocols for patient evaluation, diagnosis, and management. In the field of retinal genomics, the integration of these new technologies lays the groundwork for the automated analysis of vast genetic datasets. In fact, cutting-edge machine learning algorithms are now essential for decoding the myriad genomic variants associated with inherited retinal diseases (IRDs). Retinal genomics has definitively shown that a comprehensive genetic assessment is crucial in order to apply precision medicine to patients with both common and rare retinal disorders, such as retinitis pigmentosa, Leber congenital amaurosis, and macular dystrophies. By integrating multi-omics data—including genomics, transcriptomics, and epigenomics—AI models have demonstrated unparalleled abilities. The strategic use of these models, under strict human oversight, can help to identify key disease-related biomarkers, support the prediction of patient-specific treatment responses, and speed up the drug discovery process.

This Special Issue welcomes reviews and original articles that cover many aspects of genetics and its applications in retinal disease. These contributions may include, but are not limited to, new diagnostic, therapeutic, and imaging protocols; functional and molecular evaluations of ophthalmological disorders; the translation of research findings into clinical protocols; new management perspectives; and multi-omics analyses of disease trajectories. This Special Issue of Genes will highlight the undeniable potential of genetics to bridge the gap between groundbreaking research and clinical practice, offering a clear roadmap for future innovations in vision health. By leveraging the computational power of modern genomics, precision medicine can move closer to providing individualized, data-driven solutions for treating retinal disorders, thereby improving patient outcomes and reshaping the future of ophthalmology and healthcare.

Dr. Stefania Zampatti
Dr. Emiliano Giardina
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.