Epigenetic regulation of gene expression in rare inherited retinal disorders

The retina is a highly specialized neural tissue characterized by extreme cellular differentiation, high metabolic demand, and lifelong exposure to environmental stressors. These features render retinal cell identity exquisitely dependent on epigenetic regulation of gene expression. Rare hereditary retinal disorders offer a unique framework for understanding how epigenetic mechanisms modulate genotype-phenotype relationships in the human eye. This Mini Review provides an integrated overview of DNA methylation, histone modifications, chromatin remodeling, and non-coding RNA-mediated regulation in retinal development, homeostasis, and degeneration. We discuss how epigenetic dysregulation contributes to photoreceptor loss, phenotypic variability, and disease progression in inherited retinal dystrophies and syndromic disorders affecting the retina, and we highlight emerging translational opportunities and current limitations of epigenetic-based therapeutic strategies for rare retinal disease.