Single-Cell Transcriptomics in Inherited Retinal Dystrophies: Current Findings and Emerging Perspectives

Inherited retinal dystrophies (IRDs) represent a diverse group of disorders caused by
mutations in genes essential for retinal function and maintenance. Traditional bulk RNA
sequencing techniques provide valuable information for deciphering disease pathogenesis
but lack the resolution to capture variation among specific cell clusters during disease
progression. In contrast, single-cell transcriptomics, including single-cell RNA sequencing
(scRNA-seq), enables detailed examination of distinct retinal clusters in both healthy
and diseased states, uncovering unique gene expression signatures and early molecular
changes preceding photoreceptor cell death in IRDs. These insights not only deepen our
understanding of the complex pathogenesis of IRDs but also highlight potential targets
for novel therapeutic interventions. In this review, we examine the recent literature on
the application of single-cell transcriptomics in IRDs to explore how these techniques
enhance our understanding of disease mechanisms and contribute to the identification of
new therapeutic targets.