Characterizing the Phenotype and Genotype of a Family With Occult Macular Dystrophy

Abstract

In 1989, Miyake et al¹ first described the autosomal dominant inheritance of a hereditary macular dystrophy without visible fundus abnormalities. In all patients, focal macular electroretinography gave significantly abnormal results, making this test the gold standard for diagnosis. Several years later, after patients with similar findings were described in other parts of the world,² the condition was renamed occult macular dystrophy (OMD).³ To date, there have been about 71 reported cases of OMD that often have been confused initially with more common ocular disorders, such as normal-tension glaucoma, retrobulbar optic neuritis, amblyopia, and even nonorganic visual loss.^1-10