Jeffrey Hofmann

Nov 2, 2023 | nature.com | Charles C. Wykoff |Ehsan Ullah |Emily Y. Chew |Wadih M. Zein |Mark McCarthy |Jeffrey Hofmann | +1 more

AbstractAge-related macular degeneration (AMD), a complex neurodegenerative disease, is a leading cause of visual impairment worldwide with a strong genetic component. Genetic studies have identified several loci, but few causal genes with functional characterization. Here we highlight multiple lines of evidence which show a causal role in AMD for SLC16A8, which encodes MCT3, a retinal pigment epithelium (RPE) specific lactate transporter.