Optic disc pallor: a false localizing sign

Abstract

A 20-year-old pregnant woman was referred with bilateral mild visual acuity loss and optic disc pallor. Because of profound color vision deficits out of proportion to her acuity loss, an abnormality of the cone photoreceptors was suspected. An electroretinogram confirmed the diagnosis of a cone dystrophy and precluded further costly and invasive testing. Cone dystrophy should be considered in the differential diagnosis of any patient with bilateral, nonrefractive visual loss, especially if color vision is disproportionately affected, even with a normal retinal appearance and no significant family history.