A Rare Report of Dominant Optic Atrophy/Kjer’s Disease

Abstract

Dominant optic atrophy (DOA) orKjer's disease, caused by mutations in the OPA1 gene, is an autosomal dominant inherited pathology due to degeneration of retinal ganglion cells leading to loss of optic nerve axons. It manifests itself in atrophy of the optic nerve head, which, together with the decrease in visual acuity, alteration of the visual field and dyschromatopsia, is one of the essential elements of the diagnosis. Its molecular diagnosis (OPA1 genes in 60% of cases) allows nowadays an informed genetic counselling in the majority of cases. This disease is associated with the susceptibility of retinal ganglion cells to mitochondrial deficits, particularly affecting the respiratory chain, mitochondrial network dynamics, mitochondrial control of apoptosis, and inner membrane patterning. These molecular abnormalities underlie pathophysiological mechanisms, knowledge of which opens potential therapeutic opportunities (neuroprotectors, antioxidants, gene therapy). Case Presentation: The 22-year-old patient has experienced progressive bilateral visual acuity loss since childhood. Ophthalmologic examination showed bilateral temporal papilledema atrophy. The diagnosis of Dominant optic atrophy was confirmed through genetic testing, which detected the OPA1 gene mutation in the patient, as well as her father and grandmother. Conclusion: Despite ongoing research efforts to improve the characterization of the disease, Dominant optic atrophy remains a rare condition that is often not diagnosed promptly. The development of therapies for the disease is dependent on gaining a better understanding of it.