Ophthalmic Genetics: Unraveling the Genomics of Eye Disorders
A special issue of Biomedicines (ISSN 2227-9059). This special issue belongs to the section "Molecular Genetics and Genetic Diseases".
Deadline for manuscript submissions: 31 May 2025 | Viewed by 7
Special Issue Editor
Interests: ophthalmic genetics
Special Issue Information
Dear Colleagues,
The study of eye diseases is a rapidly evolving field that aims to understand the genetic basis of these conditions, ranging from common (glaucoma and age-related macular degeneration) to rare (retinitis pigmentosa and enhanced S-cone syndrome). By studying the genetic background of ocular disorders, researchers have been able to identify the molecular pathways that contribute to the onset and progression of disease. In addition, the introduction of genetic testing has enabled early diagnosis and the implementation of personalized treatment approaches. In this regard, the implementation of innovative tools (third generation sequencing and artificial intelligence technologies) has led to the more precise identification of pathogenic variants and enhanced gene therapy options. This knowledge has the potential to improve patient care and preventive strategies, and reduce the global burden of blindness and visual impairment.
Dr. Raffaella Cascella
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. Biomedicines 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
- ophthalmic genetics
- inherited retinal disease
- genomics
- molecular biology
- gene therapy
- artificial intelligence
- bioinformatics
- biostatistical analysis
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.
- e-Book format: Special Issues with more than 10 articles can be published as dedicated e-books, ensuring wide and rapid dissemination.
Further information on MDPI's Special Issue polices can be found here.
