Genetics of Inherited Retinal Disease in Europe: Prevalence, New Diagnostic Methodologies, and Advanced Therapies

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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• ophthalmic genetics
• inherited retinal disease
• genomics
• in vitro models
• retinal imaging
• clinical electrophysiology
• clinical trials
• cell therapy
• gene therapy
• stem cells