Gene Mutations in Retinal Dystrophies
A special issue of Biomolecules (ISSN 2218-273X).
Deadline for manuscript submissions: closed (30 September 2024) | Viewed by 340
Special Issue Editors
2. Ophthalmology Unit, Catholic University “Sacro Cuore”, 00168 Rome, Italy
Interests: ophthalmology
2. Forensic Genetics Laboratoty, Department of Biomedicine and Prevention, Tor Vergata University, 00133 Rome, Italy
Interests: forensic genetics; genetic counselling; human identification; neurogenetics; prenatal and postnatal genetic diagnosis
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
Since the early nineties, the discovery of genes implicated in IRDs has been tumultuous and has led to the identification of many disease genes, whose role in the phototransduction, visual cycle and structure of photoreceptor cells and protein trafficking in retinal cells has been progressively elucidated. Gene discovery has been pivotal in obtaining a better understanding of retinal physiology and, most importantly, for the development of therapeutic strategies for an increasing number of IRD subtypes. The focus of this Special Issue is on the gene mutations in inherited retinal dystrophies (IRD). Studies on new genes responsible for IRDs or studies on new mutations in known genes and their consequences on the physiology of retinal cells will be given special consideration. Studies on the interactions among genes and the mutational burden on disease phenotype will be also of specific interest for this Special Issue. In the hope that this Special Issue will help to expand the knowledge in the important field of genetics of IRD, we invite contributions from the laboratories and researchers engaged in this fascinating field of science.
Prof. Dr. Benedetto Falsini
Dr. Emiliano Giardina
Guest Editors
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Keywords
- genes
- retina
- inherited retinal dystrophies
- phenotype
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