Kjer's optic neuropathy

Kjer's optic neuropathy, also called dominant optic atrophy or autosomal dominant optic atrophy, is an inherited disease of the optic nerves that reduces visual acuity and can lead to blindness beginning in childhood. Vision loss can appear to return a second time when the early onset of presbyopia adds difficulty seeing close objects. The disease affects the retinal ganglion cells, whose axons form the optic nerve, and it results from mitochondrial dysfunction that leads to the death of optic nerve fibres, so it can be regarded as a disease of the central nervous system. It was first described clinically by Batten in 1896 and was named for the Danish ophthalmologist Poul Kjer in 1959, after he studied 19 families with the disease. It is the most common autosomally inherited optic neuropathy yet is often misdiagnosed.