Unravelling Functional Biology in Retinal Dystrophies and Eye Disease
A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Pathology, Diagnostics, and Therapeutics".
Deadline for manuscript submissions: 30 January 2026 | Viewed by 32
Special Issue Editors
Interests: oxidative stress; inherited retinal dystrophies (IRDs); retinitis pigmentosa (RP); cerebral cavernous malformations (CCMs); trimethylaminuria (TMAU)
Special Issues, Collections and Topics in MDPI journals
2. Department of Biomolecular Strategies, Genetics and Avant-Garde Therapies, Istituto Euro-Mediterraneo di Scienza e Tecnologia (I.E.ME.S.T.), Via Michele Miraglia, 90139 Palermo, Italy
Interests: DNA; DNA extraction; DNA sequencing; electrophoresis; DNA gel electrophoresis; DNA amplification
Special Issue Information
Dear Colleagues,
Retinal dystrophies and complex ocular diseases represent ideal models for dissecting the interplay between genotype and phenotype through integrative molecular approaches. Recent advances in next-generation sequencing, high-dimensional single-cell profiling, and spatial omics have revolutionized our ability to map the cellular and regulatory landscapes of the retina in both health and disease.
This Special Issue invites original research and comprehensive reviews that combine experimental and bioinformatic strategies to unravel the functional biology of retinal pathologies. Topics of interest include large-scale transcriptomic and epigenomic studies, network-based functional inference, machine learning for variant effect prediction, and multi-omics integration for pathway discovery.
We particularly encourage contributions employing systems biology pipelines, the in silico modeling of retinal signaling circuits, CRISPR-based perturbation screens, and validation in cutting-edge biological models such as induced pluripotent stem cell (iPSC)-derived retinal organoids and gene-edited animal models.
By bringing together computational and experimental perspectives, this Special Issue aims to promote a deeper mechanistic understanding of retinal degeneration and support the development of targeted, data-driven therapeutic strategies.
We welcome contributions from interdisciplinary teams at the intersection of molecular ophthalmology, computational biology, and translational science. We look forward to your contributions.
Dr. Luigi Donato
Dr. Simona Alibrandi
Guest Editors
Manuscript Submission Information
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Keywords
- precision ophthalmology
- inherited retinal diseases
- functional genomics
- multi-omics approaches
- photoreceptor degeneration
- retinal organoids and iPSC models
- bioinformatics and systems biology
- genotype–phenotype correlations
- RNA therapeutics and gene editing
- early and late biomarkers of retinal disease
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