The role of epigenetic modifications and potential as a therapeutic target in the treatment of inherited retinal diseases

In this thesis, I investigated the effect of therapeutics that modulate histone deacetylase or histone demethylation in three models of achromatopsia, Pde6c.GFP, Cnga3.GFP and Gnat2.GFP. In Chapter 3, I delved deeper into the understanding of histone deacetylase in achromatopsia, showing that the treatment effect appears to be dependent on the time of administration and causative mutation. In Chapter 4, I identified a novel role for H3K27me3 in the cell death that occurs in Pde6c mutant mice. Chapters 4 and 5 highlighted that treatment with the H3K27 demethylase inhibitor, GSK-J4, caused cone neuroprotection and significant molecular changes in the three achromatopsia mouse models.