Duane Retraction Syndrome, Nystagmus, Retinal Pigment Epitheliopathy and Epiretinal Membrane with Micro- and Pachygyria, Developmental Delay, Hearing Loss and Craniopharyngioma

Abstract

The combination of two neuronal migrational disorders, the unusual retinal pigment epithelial abnormalities in the proband and her mother, and evidence that each feature may be genetic and are suggestive of a genetic basis for this constellation of features.