Hereditary Optic Neuropathies

Abstract

Hereditary optic neuropathies are a rare disease group, and Leber's Hereditary Optic Neuropathy (LHON), Dominant Optic Atrophy (DOA) and Recessive Optic Atrophies are included in this disease group. These diseases may be isolated or accompanied by other systemic disorders. Leber's Hereditary Optic Neuropathy is the most common hereditary mitochondrial disease. Leber's Hereditary Optic neuropathy presents with acute-subacute, painless vision loss in the 2nd-3rd decade of life, and the other eye is usually affected within 6-8 weeks. Dominant Optic Atrophy is the most common hereditary optic neuropathy and causes slowly progressive, bilateral, symmetric vision loss in the first decade. Recessive optic atrophy begins at an earlier age than DOA, and nystagmus and severe vision loss are observed in these patients. Although there is no definitive treatment for hereditary optic neuropathies today, idebenone treatment and gene therapy for 11778 gene mutation are performed for LHON.