Molecular and Cellular Mechanisms of Inherited Retinal Dystrophies
A special issue of Cells (ISSN 2073-4409). This special issue belongs to the section "Cellular Pathology".
Deadline for manuscript submissions: 15 October 2026 | Viewed by 91
Special Issue Editors
Interests: retinal degeneration; rhodopsin; light damage; mouse models; retinal organoids
Interests: retinal degeneration; chaperons; yeast models; retinal organoids
Special Issue Information
Dear Colleagues,
Inherited retinal dystrophies (IRDs) are a group of genetic disorders characterized by progressive vision loss and represent one of the major causes of blindness in the working-age population. IRDs primarily affect the function and viability of photoreceptors and retinal pigment epithelium (RPE) cells.
To date, more than 300 genes have been associated with IRDs and are involved in essential retinal processes, including the retinoid cycle, the initiation and propagation of the phototransduction cascade, and the formation and maintenance of the photoreceptor connecting cilium. However, many aspects of disease pathogenesis remain incompletely understood; in particular, the mechanisms by which genetic variants lead to photoreceptor or RPE cell death are still only partially elucidated, and the contributions of inflammation, immune responses, and environmental and genetic modifiers to disease onset, severity, and progression remain active areas of investigation.
The purpose of this Special Issue is to highlight recent advances in the molecular and cellular understanding of IRDs. We welcome original research articles and reviews addressing insights into IRD models, mechanisms of photoreceptor and RPE degeneration, as well as risk factors and genetic modifiers influencing disease development and progression.
Dr. Rosellina Guarascio
Dr. Almudena Sacristán-Reviriego
Dr. Kalliopi Ziaka
Guest Editors
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Keywords
- retinal degeneration
- photoreceptors
- RPE
- phototransduction
- connecting cilium
- retinoid cycle
- protein folding
- inflammation
- oxidative stress
- light damage
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