biostudies-literatureBasinski BWNEI NIH HHSResearch to Prevent BlindnessA. Alfred Taubman Medical Research InstituteNCI NIH HHSNational Institutes of HealthNIGMS NIH HHS365-378https://www.ebi.ac.uk/biostudies/studies/S-EPMC8034778biostudies-literatureUnknown27(4)Retinal congenital malformations known as microphthalmia, anophthalmia, and coloboma (MAC) are associated with alterations in genes encoding epigenetic proteins that modify chromatin. We review newly discovered functions of such chromatin modifiers in retinal development and discuss the role of epigenetics in MAC in humans and animal models. Further, we highlight how advances in epigenomic technologies provide foundational and regenerative medicine-related insights into blinding disorders. Combining knowledge of epigenetics and pluripotent stem cells (PSCs) is a promising avenue because epigenetic factors cooperate with eye field transcription factors (EFTFs) to direct PSC fate - a foundation for congenital retinal disease modeling and cell therapy.Trends in molecular medicineUbiquitous Chromatin Modifiers in Congenital Retinal Diseases: Implications for Disease Modeling and Regenerative Medicine.PMC8034778R01 EY030989T32 GM113900P30 CA046592T32 GM141840Balikov DARao RCLi QAksu MBasinski BWfalseUbiquitous Chromatin Modifiers in Congenital Retinal Diseases: Implications for Disease Modeling and Regenerative Medicine.Retinal congenital malformations known as microphthalmia, anophthalmia, and coloboma (MAC) are associated with alterations in genes encoding epigenetic proteins that modify chromatin. We review newly discovered functions of such chromatin modifiers in retinal development and discuss the role of epigenetics in MAC in humans and animal models. Further, we highlight how advances in epigenomic technologies provide foundational and regenerative medicine-related insights into blinding disorders. Combining knowledge of epigenetics and pluripotent stem cells (PSCs) is a promising avenue because epigenetic factors cooperate with eye field transcription factors (EFTFs) to direct PSC fate - a foundation for congenital retinal disease modeling and cell therapy.2021-01-01T00:00:00Z2021 Apr2025-04-29T11:30:20.568Z2025-04-06T19:55:10.42ZS-EPMC80347783357391010.1016/j.molmed.2021.01.001