Genetic Diagnosis and Therapeutics of Eye Diseases

Dear Colleagues,

Ophthalmology is entering a transformative era by integrating genomic technologies into diagnostics and therapeutics. Many ocular disorders, such as retinitis pigmentosa, Leber congenital amaurosis, age-related macular degeneration, and diabetic retinopathy and glaucoma, are rooted in genetic variation. Advances in next-generation sequencing (NGS), bioinformatics, and gene-targeted therapies enable earlier diagnoses and more personalised treatment strategies.

This Special Issue aims to bring together cutting-edge research at the interface of molecular diagnostics, clinical translation, and precision therapeutics in ophthalmology. We encourage submissions across two core thematic areas:

• Diagnostic Genomics in Ophthalmology: including variant discovery, genotype–phenotype correlations, polygenic risk scores, and novel applications of NGS in inherited eye diseases.
• Clinical Translation and Therapeutic Innovation: including gene replacement therapy, CRISPR-based editing, RNA-targeted interventions, drug delivery systems, and strategies for long-term treatment monitoring.

To ensure translational relevance, contributors are strongly encouraged to address the following:

• Clinical readiness: manufacturing considerations, regulatory status, and safety data
• Long-term outcomes: durability of therapeutic effects and post-treatment follow-up
• Ethical and societal dimensions: including equitable access, affordability, and the responsible implementation of emerging therapies

We welcome original research articles, reviews, and short communications that bridge basic genomic insights with real-world clinical applications. Interdisciplinary contributions that link molecular discoveries to translational impacts are particularly encouraged.

We look forward to receiving your contributions to this Special Issue, which aims to define the current and future directions of genetic diagnostics and precision therapy in ophthalmology.

Dr. Suzana Konjevoda
Dr. Snježana Kaštelan
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.