Kjer's optic neuropathy

Dominant optic atrophy (DOA), or autosomal dominant optic atrophy (ADOA), (Kjer's type) is an autosomally inherited disease that affects the optic nerves, causing reduced visual acuity and blindness beginning in childhood. However, the disease can seem to re-present a second time with further vision loss due to the early onset of presbyopia symptoms (i.e., difficulty in viewing objects up close). DOA is characterized as affecting neurons called retinal ganglion cells (RGCs). This condition is due to mitochondrial dysfunction mediating the death of optic nerve fibers. The RGCs axons form the optic nerve. Therefore, the disease can be considered of the central nervous system. Dominant optic atrophy was first described clinically by Batten in 1896 and named Kjer’s optic neuropathy in 1959 after Danish ophthalmologist Poul Kjer, who studied 19 families with the disease. Although dominant optic atrophy is the most common autosomally inherited optic neuropathy (i.e., disease of the optic nerves), it is often misdiagnosed. Presentation Autosomal dominant optic atrophy can present clinically as an isolated bilateral optic neuropathy (non-syndromic form) or rather as a complicated phenotype with extra-ocular signs (syndromic form). Dominant optic atrophy usually affects both eyes roughly symmetrically in a slowly progressive pattern of vision loss beginning in childhood and is hence a contributor to childhood blindness. A Humphrey Visual Field (HVF) can detect where areas of impaired vision have occurred, which usually shows up as central, centrocaecal, or paracentral scotomas for DOA patients. Another visual test—optical coherence tomography (OCT) analyzes the optic nerve head—shows other structural consequences of the disease as retinal nerve fiber layer (RNFL) and ganglion cell layer thinning. Photographs of the fundus shows the typical optic atrophy worse on the temporal side of the optic disc in the shape of a wedge. Cupping of the optic disc was found in 89% of DOA patients in at least one of their eyes. With loss of the central visual fields, there is impairment of color vision in addition to loss of visual acuity varying from mild to severe, typically ranging from 6/6 (in meters, equivalent to 20/20, ft) to 6/60 (20/200, ft) with a median value of 6/36 (roughly equivalent to 20/125 ft), corrected vision. Vision loss may sometimes be more severe.