The Phenotype of Severe Early Childhood Onset Retinal Dystrophy (SECORD) from Mutation of<i>RPE65</i>and Differentiation from Leber Congenital Amaurosis

Abstract

The identification of patients with mutations in RPE65 has attained greater significance now that gene replacement trials have begun. The features presented in this article assist in the recognition of this form of LCA/SECORD.