Jason M. L. Miller

This study identifies a pathogenic MYRF variant causing isolated nanophthalmos by showing it is cleavage deficient, mislocalized, and reduces transcriptional activity with SOX10.

This study investigates how peroxisome dysfunction in human retinal pigment epithelium (RPE) affects photoreceptor outer segment metabolism, revealing disrupted fatty acid retroconversion and lipid droplet accumulation.

This study shows that inhibiting acetyl-CoA carboxylase with Firsocostat increases fatty acid oxidation and reduces lipid deposits in RPE cells, potentially limiting drusen accumulation in AMD.

This study shows that enzymatic assays overestimate β-hydroxybutyrate (β-HB) in RPE cultures, while mass spectrometry reveals equal apical and basal secretion and β-HB sources from fatty acids and amino acids.