Hereditary Optic Neuropathies

This chapter outlines the various types of hereditary optic neuropathies and their genetics. Leber’s hereditary optic neuropathy (LHON) is the first described and most common mitochondrial optic neuropathy, and is discussed in detail including its genetics and pathophysiology, clinical presentation, relevant investigations relatively recent findings using newer imaging modalities such as OCT. Autosomal dominant optic atrophy (ADOA) is described, and the major differences between ADOA and LHON are discussed. Other entities such as Wolfram syndrome and syndromic optic neuropathies are also included. Recent advances and newer modalities for treatment and ongoing therapeutic clinical trials are outlined.