Genetics of Inherited Retinal Disease in Europe: Prevalence, New Diagnostic Methodologies, and Advanced Therapies
A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Molecular Genetics and Genomics".
Deadline for manuscript submissions: closed (10 March 2023) | Viewed by 2707
Special Issue Editors
Interests: stem cells; genome editing; cell therapy; ATMPs; retinal degeneration; AMD; stargardt; retinitis pigmentosa
Special Issues, Collections and Topics in MDPI journals
Interests: retinal degeneration; cell therapy; gene therapy; small molecules; retinitis pigmentosa; age-related macular degeneration
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
Inherited retinal degenerations (IRDs) are a group of phenotypically and genotypically heterogeneous disorders with variable penetrance and severity. IRDs affect about 1 in 2000–4000 individuals globally, and are the leading cause of blindness in Western countries.
There are different phenotypes of IRD, including photoreceptor-predominant diseases such as retinitis pigmentosa and Leber congenital amaurosis, macular dystrophies such as Stargardt and Best disease, and vitreoretinopathies. Due to the multiple genes involved, the myriad possible mutations, and the vast variety of phenotypes, a confirmed molecular diagnosis becomes critical for sound clinical management, prognostic assessment, and more importantly, successful treatment chances.
Currently, IRDs are largely incurable; fortunately, however, treatment options for these diseases are changing rapidly. Research into newer treatments such as gene therapy and cell-replacement therapy has shown promise in addressing this need, with the primary goal of preventing further vision loss or even improving vision.
This Special Issue focuses on studies of the prevalence of IRDs in European populations, innovative diagnostics, as well as current advances in developing new therapies based on gene delivery and cell-replacement strategies.
Dr. Álvaro Plaza Reyes
Dr. Francisco J. Diaz Corrales
Guest Editors
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Keywords
- ophthalmic genetics
- inherited retinal disease
- genomics
- in vitro models
- retinal imaging
- clinical electrophysiology
- clinical trials
- cell therapy
- gene therapy
- stem cells
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