- Leber's Hereditary Optic Neuropathy (LHON): Leads to acute or subacute loss of central vision due to optic nerve degeneration. - Mitochondrial Myopathy: Characterized by muscle weakness, exercise intolerance, and the presence of ragged red fibers in muscle biopsy. - Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes (MELAS): Involves multiple systems including the CNS and presents histologically with spongiform changes and gliosis. - Kearns-Sayre Syndrome (KSS): Affects the CNS, eyes, heart, and skeletal muscle, often showing abnormal mitochondria in muscle biopsies.
