Analyses of Expression Patterns of Genes Associated with Inherited Retinal Degeneration in Different Cell Types of the Human Retina

Inherited retinal dystrophies (IRDs) are familial or inherited forms of retinal degeneration that are characterized by the progressive loss of photoreceptor cells, leading to the eventual loss of vision. Genetic studies have identified more than 300 genes that are altered in different forms of IRDs. Analyses of human retinal single-cell RNA-sequencing (scRNAseq) data from published studies were performed to examine differential gene expression in different retinal cell types and understand how correlations in gene expression in various retinal cell types may play a role in the pathogenesis of IRDs. Our analyses have shown remarkably different patterns of expression of genes associated with different subtypes of IRDs in different retinal cell types. Interestingly, different genes associated with the same pathological subtypes of IRDs may show distinct patterns of expression in different retinal cell types. Gene pathways were analyzed to examine the relationship between IRD genes and molecular function in the human retina. Using different tools, gene networks were also constructed by clustering genes into networks based on correlations in their expression levels. Identifying gene pathways annetworks will provide information that will lead to a better understanding of the pathogenesis of IRDs