The Hereditary Optic Atrophies

There are a number of hereditary conditions in which optic atrophy may be a feature. These include skeletal conditions such as cranio-stenosis, some of the phakomatoses, congenital glaucoma and so on. In these conditions the optic atrophy is the result of a fairly obvious mechanism such as optic nerve compression, the effects of intraocular pressure on circulation in the nerve head or optic atrophy secondary to retinal damage such as is seen in Leber's hereditary amaurosis. I am not, however, going to consider this group further, restricting my talk to consideration of Leber's hereditary optic atrophy and to dominantly inherited optic atrophy. As you know, Leber's hereditary optic atrophy is a bilateral condition affecting males more often than females. It is characterised by a sudden onset of optic neuritis with papillitis in each eye, going on to bilateral primary optic atrophy with permanently poor central vision. The onset usually occurs in the teens but may be in childhood or in adult life. Although both eyes are affected, there is usually some asymmetry about the time of onset, and sometimes there may be a gap of weeks before the second eye is affected. In most cases