'RetinoGenetics': a comprehensive mutation database for genes related to inherited retinal degeneration

Abstract

Inherited retinal degeneration (IRD), a leading cause of human blindness worldwide, is exceptionally heterogeneous with clinical heterogeneity and genetic variety. During the past decades, tremendous efforts have been made to explore the complex heterogeneity, and massive mutations have been identified in different genes underlying IRD with the significant advancement of sequencing technology. In this study, we developed a comprehensive database, ‘RetinoGenetics’, which contains informative knowledge about all known IRD-related genes and mutations for IRD. ‘RetinoGenetics’ currently contains 4270 mutations in 186 genes, with detailed information associated with 164 phenotypes from 934 publications and various types of functional annotations. Then extensive annotations were performed to each gene using various resources, including Gene Ontology, KEGG pathways, protein–protein interaction, mutational annotations and gene–disease network. Furthermore, by using the search functions, convenient browsing ways and intuitive graphical displays, ‘RetinoGenetics’ could serve as a valuable resource for unveiling the genetic basis of IRD. Taken together, ‘RetinoGenetics’ is an integrative, informative and updatable resource for IRD-related genetic predispositions.Database URL: http://www.retinogenetics.org/.

NRF2 promotes neuronal survival in neurodegeneration and acute nerve damage

“…The key neuronal cell type that undergoes degeneration in most inherited forms of blindness is the cone photoreceptor, which mediates high-acuity and color vision (26). Such inherited diseases are genetically heterogeneous, with at least 60 loci identified in humans for RP, one of the more common forms of inherited blindness (27). Most of the RP genes primarily or exclusively affect the rod photoreceptor, which mediates vision in low light conditions.…”

“…There is exceptional genetic heterogeneity associated with retinal degeneration diseases, with approximately 200 disease genes and thousands of mutations identified in humans leading to blindness (27). Addressing each genetic deficit would be a dif- Figure 8.…”

Activation of the molecular chaperone, sigma 1 receptor, preserves cone function in a murine model of inherited retinal degeneration

“…There is great heterogeneity underlying retinal degenerative diseases. Thousands of mutations in >200 genes have been identified that lead to blindness in humans (2). In developing therapeutic strategies to treat blindness, it may not be practical to target each genetic defect; however targeting common disease mechanisms holds promise for the development of realistic treatment for patients suffering from retinal disease.…”

Genome-Wide Detection of Copy Number Variations in Unsolved Inherited Retinal Disease

“…To date, more than 250 disease-causing genes and 4000 different mutations have been identified in multiple phenotypes of IRDs (RetNet; https://sph.uth.edu/retnet/home.htm, in the public domain). 5,6 Among these identified IRD genes, the top leading ones include USH2A, EYS, ABCA4, PDE6B, RPGR, and RHO. [7][8][9][10][11][12][13] However, a definitive molecular diagnosis of IRD remains extremely complex and challenging because mutations are only detected in 40% to 60% of cases.…”