Dominant Optic Atrophy and Leber ’s Hereditary Optic Neuropathy: Update on Clinical Features and Current Therapeutic Approaches

Dominant optic atrophy (DOA) and Leber hereditary optic neuropathy (LHON) are the two most common inherited optic neuropathies encountered in clinical practice. This review provides a summary of recent advances in the understanding of the clinical manifestations, current treatments, and ongoing clinical trials of these two optic neuropathies. Substantial progress has been made in the understanding of the clinical, genetic, and pathophysiological basis of DOA and LHON. Pathogenic OPA1 gene mutations in DOA and 3 primary mutations of mitochondrial DNA in LHON-induced mitochondrial dysfunction, which in turn leads to increased reactive oxygen species levels in mitochondria and possibly insufficient ATP production.

Source: Seminars in Pediatric Neurology - June 30, 2017 Category: Neurology Authors: Bo Young Chun, Joseph F. Rizzo Source Type: research