Late-Onset Macular Degeneration and Long Anterior Lens Zonules Result from a<i>CTRP5</i>Gene Mutation

Abstract

A single locus at 11q23 is implicated in a complex ocular phenotype involving RPE and CE, tissues of neuroectodermal origin. All individuals with either LAZ and/or macular degeneration carry the same CTRP5 S163R mutation, which is transmitted in autosomal dominant manner.