Special Issue "Inherited Retinal Diseases"
Deadline for manuscript submissions: 22 March 2022.
Interests: inherited retinal diseases; retinal biology
Inherited retinal diseases (IRDs), which are among the most common genetic diseases in humans, define a clinically and genetically heterogeneous group of disorders that cause visual loss due to improper development, improper function, or premature death of the retinal photoreceptors. IRDs are distinguished by several factors, including the type and location of affected cells and the timing of disease onset. However, these heterogeneous clinical entities lie along a spectrum, and in some cases, the diagnostic boundaries between them are not distinct. Over 260 genes have been implicated in IRDs. However, the contribution of each of these genes to the overall prevalence of the disease is relatively small, and for many of them, pathogenic mutations have been reported in only a few families worldwide. Moreover, in approximately 30% of IRD patients, the underlying genes are yet to be found. These factors make both the clinical and the molecular diagnosis of IRDs very challenging. In addition, the biological function and disease etiology of many of the genes associated with IRD are not fully understood. This Special Issue will focus on IRD clinical genetics, molecular genetics, diagnosis, bioinformatics, and functional studies, among other topics.
Prof. Dr. Tamar Ben-Yosef
Manuscript Submission Information
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- retinal degeneration