Search for Articles:
Title / Keyword
Author / Affiliation / Email
Journal
Article Type
 
 
Advanced Search
 
Section
Special Issue
Volume
Issue
Number
Page
 
5.9
3.1
Journals
Genes
Special Issues
Advances in Ophthalmic Genetics
share announcement

Advances in Ophthalmic Genetics

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

Deadline for manuscript submissions: 20 December 2026 | Viewed by 596

Editor

Prof. Dr. Se Joon Woo

E-Mail Website
Guest Editor
Department of Ophthalmology, Seoul National University Bundang Hospital, 173-82 Gumi-ro, Bundang-gu, Seongnam-si 13620, Gyeonggi-do, Republic of Korea
Interests: inherited retinal diseases; retinal artery occlusion; age-related macular degeneration; biosimilars; diabetic retinopathy; ocular drug delivery
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Inherited eye diseases (IED) including Inherited retinal disease (IRD) are a major cause of bilateral visual decline and blindness worldwide. To date, there is no definitive treatment option for this condition. Recently, there have been advances in the field of genetic diagnosis and treatment methods, including gene therapy and genome editing. Since the approval of gene therapy for RPE65-related IRD, the future of treatment of IED appears bright, and more patients with IRD may be saved from blindness as technology develops. To reach a better visual outcome for IED patients, a greater understanding of IED, including genetics, mechanism, clinical features, and preclinical and clinical trial results are needed for physicians, researchers, and patients, as well as pharmaceutical companies and governments.

In this Special Issue, we welcome reviews and original articles about the study of IED. These include, but are not limited to, genetics and molecular mechanisms of IED, diagnosis, clinical features and imaging of IED cases, epidemiology, ethnic variability, preclinical research, and clinical trials of new treatments. We look forward to your contributions. Thank you.

Prof. Dr. Se Joon Woo
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 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-anonymized 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 eye diseases
  • inherited retinal diseases
  • retinitis pigmentosa
  • macular dystrophy
  • cone dystrophy
  • genotype
  • gene therapy
  • clinical trial
  • imaging
  • genetic mechanism
  • genome editing
  • phenotype

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 (1 paper)

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

Review

18 pages, 1825 KB  
Review
The Trajectory of Gene Discovery in Retinitis Pigmentosa
by Anthony X. J. Wong, Zachary Chua, Jing Guo, Hwee Goon Tay, Zhen Xun Wang, Mathieu Quinodoz, Tien-En Tan, Carlo Rivolta and Beau J. Fenner
Genes 2026, 17(8), 940; https://doi.org/10.3390/genes17080940 - 12 Aug 2026
Viewed by 276
Abstract
Background: To assess how historical patterns in retinitis pigmentosa (RP) gene inheritance, functional category, and phenotypic onset may inform the remaining unsolved RP discovery space. Methods: We manually reviewed PubMed-indexed primary reports in the RetiGene database, supplemented with PubMed-indexed human studies where necessary [...] Read more.
Background: To assess how historical patterns in retinitis pigmentosa (RP) gene inheritance, functional category, and phenotypic onset may inform the remaining unsolved RP discovery space. Methods: We manually reviewed PubMed-indexed primary reports in the RetiGene database, supplemented with PubMed-indexed human studies where necessary to improve extractable phenotype data. Gene-level variables extracted included age of symptom onset, inheritance pattern, functional category and syndromic association. Gene-level associations between earliest year of RP gene discovery and mean age of symptom onset were assessed, alongside temporal analyses for functional category, inheritance, and syndromic patterns. Results: Later year of gene discovery was associated with later mean age of symptom onset, both in the primary analysis restricted to genes with at least 5 extractable onset cases (n = 83, p < 0.001) and in a stricter sensitivity analysis restricted to genes with at least 10 onset cases (n = 66, p = 0.00525). Year of discovery differed significantly across functional categories (p < 0.001). No significant temporal association was observed for AR versus non-AR inheritance or syndromic status. Conclusions: This hypothesis-generating analysis suggests that observed patterns likely reflect a combination of biological detectability, study design, and publication dynamics rather than intrinsic gene–phenotype relationships alone; within this context, future RP-solving efforts may benefit from greater attention to less obvious biological pathways (such as ciliary, transport, and metabolic categories), along with later-presenting or less conspicuous phenotypes. Full article
(This article belongs to the Special Issue Advances in Ophthalmic Genetics)
►▼ Show Figures

Figure 1

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