Mitochondrial damage and related ocular disorders

Abstract

Mitochondria are recognized to function as the powerhouse of the cell.The etiology of many common ocular disorders is increasingly recognized to involve either an accumulation of mitochondrial DNA (mtDNA) mutations and/or secondary mitochondrial damage.Novel pathogenic mtDNA mutations continue to be detected for primary mitochondrial ophthalmologic disorders that commonly affect the optic nerve, retina, and extraocular muscles.Mitochondrial dysfunction is also increasingly implicated in common ophthalmologic disorders, including diabetic retinopathy, age-related macular degeneration (AMD), and glaucoma.As the promise of personalized genomic medicine is becoming a reality, effective therapies for mitochondrial disorders are beginning to translate from bench to bedside along the paths of neuroprotection, gene replacement and stem cell-based regenerative paradigms.Additionally, preventing the transmission of pathogenic mtDNA mutations from mother to child is now a reality with in vitro fertilization mitochondrial replacement techniques. Key words: Mitochondria; Mitochondrial DNA mutation; Mitochondrial dysfunction; Gene therapy