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Inherited Retinal Diseases: Genetic Research and Novel Therapeutic Prospects
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Inherited Retinal Diseases: Genetic Research and Novel Therapeutic Prospects

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

Deadline for manuscript submissions: 10 February 2026 | Viewed by 2045

Special Issue Editor

Dr. Ditta Zobor

E-Mail Website
Guest Editor
1. Department of Ophthalmology, Semmelweis University, 1085 Budapest, Hungary
2. Institute for Ophthalmic Research, University of Tübingen, 72076 Tübingen, Germany
Interests: retinal diseases; ophthalmic disorders; inherited retinal diseases; ophthalmogenetics
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

We are delighted to extend our invitation to contribute to this Special Issue, titled "Inherited Retinal Diseases: Genetic Research and Novel Therapeutic Prospects". Inherited retinal disorders (IRDs) comprise a set of rare diseases, whose remarkable genetic diversity has been demonstrated by the identification of over 300 genes to date which contribute to retinal dystrophies, resulting in the functional and structural impairment of retinal cells, primarily photoreceptors or the retinal pigment epithelium (RPE).

This Special Issue seeks to explore the most fascinating and complex aspects of the etiopathology of hereditary retinal diseases and macular degeneration, emphasizing the crucial role of alterations in cellular biology and molecular genetics in the initiation and advancement of these conditions. It examines the remarkable intricacy of the multilayered molecular mechanisms and present strategies employed to safeguard the retina.

The existence of numerous ongoing interventional studies, including those which are pharmacological or involve gene therapy, necessitates determining outcomes that are sensitive, practical, and relatively quick to assess the safety and effectiveness of the suggested interventions. In managing slow-progressing diseases, it is particularly crucial to comprehend fundamental molecular mechanisms and relate them to clinical observations.

Research yielding these kinds of data is appreciated and will assist in clarifying natural disease progression and creating future treatment options.

Dr. Ditta Zobor
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

  • inherited retinal degeneration
  • ophthalmogenetics
  • genotype–phenotype correlations
  • gene therapy
  • optogenetics
  • stem cell therapy
  • neuroprotection
  • clinical studies

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Published Papers (2 papers)

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16 pages, 1868 KB  
Article
Cystoid Macular Lesions in Inherited Retinal Diseases: Prevalence, Characteristics, and Genetic Associations in a Hungarian Cohort
by Barbara Asboth, Alessandra Sanrocco, Barbara Besztercei, Balazs Lesch, Agnes Takacs, Rita Vamos, Balazs Varsanyi, Andras Vegh, Krisztina Knezy, Viktoria Szabo, Zoltan Zsolt Nagy and Ditta Zobor
Genes 2025, 16(10), 1212; https://doi.org/10.3390/genes16101212 - 14 Oct 2025
Viewed by 447
Abstract
Background/Objectives: Cystoid macular lesion (CML) is a treatable cause of central vision loss in inherited retinal diseases (IRDs). We aimed to determine the frequency of CML in a large Hungarian IRD cohort and examine associations with causative genes. Methods: This longitudinal, [...] Read more.
Background/Objectives: Cystoid macular lesion (CML) is a treatable cause of central vision loss in inherited retinal diseases (IRDs). We aimed to determine the frequency of CML in a large Hungarian IRD cohort and examine associations with causative genes. Methods: This longitudinal, retrospective, monocentric study included patients with genetically confirmed IRD identified from our database. Targeted next-generation sequencing (351-gene panel) and comprehensive ophthalmic evaluation were performed, including best-corrected visual acuity (BCVA) and spectral domain optical coherence tomography (SD-OCT). CML was defined as intraretinal hyporeflective spaces with well-defined borders visible on at least two B-scans within the SD-OCT macular volume and was categorized as cystoid macular edema (CME) or non-CME. Results: We enrolled 430 patients with genetically confirmed IRDs. CML was detected in 93 eyes of 57 patients. Mean age at OCT was 36.6 ± 18.7 years (range, 3–76); 32 were male (56.1%). Inheritance patterns were autosomal recessive in 24 (42.1%), X-linked in 19 (33.3%), and autosomal dominant in 14 (24.6%). Frequently implicated genes were RS1 (12/57), USH2A (7/57), NR2E3 (7/57), PRPF31 (4/57), RPGR (4/57), and RHO (4/57). CME predominated in retinitis pigmentosa (32/57, 56%), with mean BCVA 0.44 ± 0.29 (decimal) and central retinal thickness (CRT) 401 ± 181 µm. Non-CME CML occurred in 25/57 (44%)—notably in X-linked retinoschisis and enhanced S-cone syndrome—with BCVA 0.40 ± 0.23 and CRT 465 ± 258 µm. BCVA did not correlate with CRT (rS = 0.18). Conclusions: CML occurred in 13.2% of patients within a large Hungarian cohort of genetically confirmed IRDs. Patients with IRD—mainly RP—are at higher risk for CML. Gene therapy is promising for retinal diseases, but CMLs can compromise effectiveness. Reducing and managing CME before gene therapy corroborates retinal stability and the functional state essential for the proper delivery and penetration of corrective genes to the target cells. Full article
(This article belongs to the Special Issue Inherited Retinal Diseases: Genetic Research and Novel Therapeutic Prospects)
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18 pages, 1956 KB  
Article
Panel-Based Genetic Testing in a Consecutive Series of Individuals with Inherited Retinal Diseases in Australia: Identifying Predictors of a Diagnosis
by Alexis Ceecee Britten-Jones, Doron G. Hickey, Thomas L. Edwards and Lauren N. Ayton
Genes 2025, 16(8), 888; https://doi.org/10.3390/genes16080888 - 27 Jul 2025
Cited by 2 | Viewed by 1157
Abstract
Background/Objectives: Genetic testing is important for diagnosing inherited retinal diseases (IRDs), but further evidence is needed on the utility of singleton genetic testing in an Australian cohort. Methods: A consecutive series of individuals with clinically diagnosed IRDs without prior genetic testing [...] Read more.
Background/Objectives: Genetic testing is important for diagnosing inherited retinal diseases (IRDs), but further evidence is needed on the utility of singleton genetic testing in an Australian cohort. Methods: A consecutive series of individuals with clinically diagnosed IRDs without prior genetic testing underwent commercial panel-based sequencing (Invitae or Blueprint Genetics), clinical assessment, and multimodal imaging. Retinal images were graded using the Human Phenotype Ontology terms. Binary logistic regression was used to evaluate clinical predictors of a positive molecular diagnosis. Results: Among 140 participants (mean age 49 ± 19 years), genetic testing was undertaken, on average, 23 ± 17 years after the initial clinical IRD diagnosis. Of the 60% who received a probable molecular diagnosis, 40% require further phase testing, highlighting the limitations of singleton genetic testing. USH2A, ABCA4, and RPGR were the most common encountered genes; 67% of the probably solved participants had causative genes with targeted experimental treatments in ongoing human clinical trials. Symptom onset before the age of 30 (OR = 3.06 [95% CI: 1.34–7.18]) and a positive IRD family history (OR = 2.87 [95% CI: 1.27–6.78]) were each associated with higher odds of receiving a molecular diagnosis. Diagnostic rates were comparable across retinal imaging phenotypes (atrophy and autofluorescence patterns in widespread IRD, and the extent of dystrophy in macular IRDs). Conclusions: In an Australian IRD population without prior genetic testing, commercial panels yielded higher diagnostic rates in individuals with IRD onset before the age of 30 and those with an IRD family history. Further research is needed to understand the genetic basis of IRDs, especially isolated and late-onset cases, to improve diagnosis and access to emerging therapies. Full article
(This article belongs to the Special Issue Inherited Retinal Diseases: Genetic Research and Novel Therapeutic Prospects)
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