Abstract
Presentation Description :
Diseases caused by the m3243A.G mutation in the mitochondrial genome have a variable phenotypic spectrum of severity that can include geographic atrophy of the retinal pigment epithelium (RPE). In a phenomenon referred to as heteroplasmy, mitochondrial genomes harboring mutations may not be homogeneously distributed through all tissues and all cells, but until recently determining the mutation load in different cell types was very difficult. In this presentation we will discuss what we are learning from studying donated eyes from patients with m.3243A>G mutation and the anatomical and molecular changes in the eye at the single cell level.
This abstract was presented at the 2024 ARVO Annual Meeting, held in Seattle, WA, May 5-9, 2024.