Clinical Features in Affected Individuals From 21 Pedigrees With Dominant Optic Atrophy

Abstract

AUTOSOMAL dominant optic atrophy (DOA), Kjer type,¹ is a disorder that leads to optic nerve pallor and reduced visual acuity.² First described by Batten in 1896,³ the disease appears with an insidious onset of variable visual loss, optic nerve pallor, cecocentral visual field scotoma, and color vision deficit.^4-8 Histopathological^9,10 and electrophysiological^11-13 studies suggest that the underlying defect is retinal ganglion cell degeneration accompanied by optic atrophy.