Search for Articles:
Title / Keyword
Author / Affiliation / Email
Journal
Article Type
 
 
Advanced Search
 
Section
Special Issue
Volume
Issue
Number
Page
 
5.5
2.8
Journals
Genes
Special Issues
Genetic Diagnosis and Therapeutics of Eye Diseases
share announcement

Genetic Diagnosis and Therapeutics of Eye Diseases

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

Deadline for manuscript submissions: 25 October 2026 | Viewed by 3826

Special Issue Editors

Dr. Suzana Konjevoda

E-Mail Website
Guest Editor
Department of Ophthalmology, Zadar General Hospital, 23000 Zadar, Croatia
Interests: ophthalmology; glaucoma; macular degeneration; diabetic retinopathy; molecular diagnosis
Dr. Snježana Kaštelan

E-Mail Website
Guest Editor
Department of Ophthalmology, Clinical Hospital Dubrava, School of Medicine, University of Zagreb, 10000 Zagreb, Croatia
Interests: glaucoma; diabetic retinopathy; dry eye disease; ocular tumors; immunotherapy; molecular genetic; biomarkers; inflammation
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

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.

Keywords

  • genetic eye diseases
  • inherited retinal disorders
  • ophthalmic genetics
  • gene therapy
  • genetic diagnosis
  • retinitis pigmentosa
  • leber congenital amaurosis
  • personalised medicine
  • ocular therapeutics
  • genomic medicine
  • molecular diagnostics
  • precision ophthalmology

Benefits of Publishing in a Special Issue

  • Ease of navigation: Grouping papers by topic helps scholars navigate broad scope journals more efficiently.
  • Greater discoverability: Special Issues support the reach and impact of scientific research. Articles in Special Issues are more discoverable and cited more frequently.
  • Expansion of research network: Special Issues facilitate connections among authors, fostering scientific collaborations.
  • External promotion: Articles in Special Issues are often promoted through the journal's social media, increasing their visibility.
  • Reprint: MDPI Books provides the opportunity to republish successful Special Issues in book format, both online and in print.

Further information on MDPI's Special Issue policies can be found here.

Published Papers (3 papers)

Download All Papers
Order results
Result details
Show export options expand_more Show export options expand_less
Select all
Export citation of selected articles as:

Research

Jump to: Review

11 pages, 805 KB  
Article
Causal Association Between Psoriasis and Age-Related Macular Degeneration: A Two-Sample Mendelian Randomization Study
by Young Lee, Soojin Kim and Je Hyun Seo
Genes 2025, 16(12), 1489; https://doi.org/10.3390/genes16121489 - 12 Dec 2025
Viewed by 801
Abstract
Background/Objectives: Psoriasis and age-related macular degeneration (AMD) may share immune-related pathophysiologic characteristics. However, few studies have investigated the relationship between psoriasis and AMD. We assessed the possible causal link between psoriasis and AMD in European populations. Methods: Single-nucleotide polymorphisms associated with psoriasis exposure [...] Read more.
Background/Objectives: Psoriasis and age-related macular degeneration (AMD) may share immune-related pathophysiologic characteristics. However, few studies have investigated the relationship between psoriasis and AMD. We assessed the possible causal link between psoriasis and AMD in European populations. Methods: Single-nucleotide polymorphisms associated with psoriasis exposure were employed as instrumental variables (IVs) based on genome-wide significance (p < 5.0 × 10−8) in the FinnGen genome-wide association study (GWAS). The GWAS data for AMD were obtained from 11 studies performed by the International AMD Genomics Consortium. We performed a two-sample Mendelian randomisation (MR) study to estimate causal effects using the inverse-variance weighted, weighted median, and MR-Egger methods, as well as the MR-Pleiotropy Residual Sum and Outlier (MR-PRESSO) test. Results: We observed significant causal associations of psoriasis with AMD. Using the weighted median method, the odds ratio (OR) was 1.09 (95% CI = [1.03–1.16] and p = 0.005), and using the MR-PRESSO test, the OR was 1.04 (95% CI = [1.00–1.09] and p = 0.043). Conclusions: A potential causal association between psoriasis and AMD underscores the need to investigate inflammation as a risk factor for AMD. Full article
(This article belongs to the Special Issue Genetic Diagnosis and Therapeutics of Eye Diseases)
►▼ Show Figures

Figure 1

20 pages, 4060 KB  
Article
Secondary Ophthalmic Features Represent Diagnostic Clues and Potential Points of Intervention for Inherited Retinal Diseases (Target 5000 Report 3)
by Kirk A. J. Stephenson, Julia Zhu, Marcus Conway, Bridget Moran, Adrian Dockery, Laura Whelan, Jacqueline Turner, James J. O’Byrne, D. Ian Flitcroft, G. Jane Farrar and David J. Keegan
Genes 2025, 16(12), 1433; https://doi.org/10.3390/genes16121433 - 1 Dec 2025
Viewed by 718
Abstract
Background/Objective: Inherited retinal degenerations (IRDs) are the leading cause of blind registration in children and adults, yet 30–40% of cases remain genetically unresolved. Deep ophthalmic phenotyping may help to address this shortfall by identifying characteristic phenotypes. We describe the ophthalmic features of patients [...] Read more.
Background/Objective: Inherited retinal degenerations (IRDs) are the leading cause of blind registration in children and adults, yet 30–40% of cases remain genetically unresolved. Deep ophthalmic phenotyping may help to address this shortfall by identifying characteristic phenotypes. We describe the ophthalmic features of patients with stationary or progressive inherited retinal diseases other than outer retinal degeneration (i.e., secondary ophthalmic features, SOFs). Methods: This is a retrospective review of all patients attending an ophthalmic genetics clinic with a genetically confirmed IRD focusing on SOFs including refractive error, cataract, retinal detachment (RRD), cystoid macular lesions (CML) and epiretinal membrane (ERM). These features were assessed in the context of phenotype and genotype. Results: In a cohort of 429 genotyped patients, ≥1 SOFs were seen in 70.2% of patients, with 36.6% being affected by multiple SOFs. Refractive error (63.3%) and cataract (43.4%) were the most common secondary features, with a subset affected by CML (14.7%), ERM (10%) and RRD (4.7%). Conclusions: SOFs are common in patients with IRDs and most are amenable to therapeutic intervention even when no primary treatment (e.g., gene therapy) is available. We highlight patterns associated with genotypes and disease groups which may aid harmonisation of clinical and genetic diagnoses. Full article
(This article belongs to the Special Issue Genetic Diagnosis and Therapeutics of Eye Diseases)
►▼ Show Figures

Figure 1

Review

Jump to: Research

16 pages, 751 KB  
Review
Genetic Therapy of Fuchs Endothelial Corneal Dystrophy: Where Are We? A Review
by Spela Stunf Pukl
Genes 2025, 16(10), 1222; https://doi.org/10.3390/genes16101222 - 15 Oct 2025
Cited by 1 | Viewed by 1792
Abstract
Objectives: The incidence of Fuchs endothelial corneal dystrophy (FECD) is growing, and with it, the unmet need for a corneal transplant. Among alternative treatment modalities, only genetic therapy represents a causal therapy. Methods: Following the SNARA protocol, the PubMed and ClinicalTrials databases were [...] Read more.
Objectives: The incidence of Fuchs endothelial corneal dystrophy (FECD) is growing, and with it, the unmet need for a corneal transplant. Among alternative treatment modalities, only genetic therapy represents a causal therapy. Methods: Following the SNARA protocol, the PubMed and ClinicalTrials databases were searched using the keywords Fuchs endothelial corneal dystrophy, FECD, genetic therapy, and CRISPR-Cas9. Results: FECD is polyfactorial disease and mutations or polymorphisms in at least 15 different genes were connected to the disease. For the early-onset form of the disease, exclusive connection to mutations in COL8A2 was confirmed, while for the late-onset form, the most characteristic mutation is the expansion of the CTG18.1 triplet in the TCF4 gene, making these two possible targets. While the CRISPR-Cas9 approach represents the mainstay of genetic therapy development recently, the application of this method to FECD contains several obstacles, studied in preclinical settings. DT-168 and the Ad-Cas9-Col8a2gRNA molecules were developed for FECD treatment and preclinically tested, and phase I and II clinical studies for DT-168 are also already being performed. Conclusions: The review of the literature proved that genetic therapy for FECD is at the level of preclinical research and that there are several specific challenges connected to the target genetic mutation as well as the delivery of possible treatment and duration of the effect. Further studies in the field might bring solutions in the future for alternative treatments for this common corneal disease. Full article
(This article belongs to the Special Issue Genetic Diagnosis and Therapeutics of Eye Diseases)
►▼ Show Figures

Figure 1

Show export options expand_more Show export options expand_less
Select all
Export citation of selected articles as:
 
Displaying articles 1-3
Back to TopTop