Mitochondrial Diseases Associated with Retinopathy

Abstract

Mitochondria are organelles that meet the energy needs of the cell through the electron transport chain and oxidative phosphorylation system. Its functions are regulated by double genomes, nuclear and mitochondrial DNA. Mutations that can occur in both genomes cause mitochondrial diseases, a group of clinically and genetically heterogeneous diseases. The entire ocular system, from the eyelids to the extraocular muscles, to the retina, such as the central nervous system, skeleton, and cardiac muscles, needs high oxidative phosphorylation. Common ophthalmic symptoms of mitochondrial dysfunction include optic atrophy, pigmentary retinopathy, cataracts, sudden vision loss, external ophthalmoplegia. Pigmentary retinopathy is the most common nonspecific retinal pathology and threatens vision. The emergence of the same mutation with different phenotypes in different individuals and tissues affects the clinical appearance of retinal pathologies. Different dystrophies can be observed, ranging from mild retinal pigment epithelial changes to salt pepper retinopathy, from circumferential perifoveal atrophy to reasonable pattern dystrophy. Diagnosis of all mitochondrial diseases requires detailed systemic screening. It is important to recognize and diagnose the ophthalmological signs of mitochondrial disorders as early as possible. Although treatments are mostly symptomatic, antioxidant treatments continue to be developed and gene therapy is promising for new cases.