A Genotype-Phenotype Comparison of<i>ADAMTSL4</i>and<i>FBN1</i>in Isolated Ectopia Lentis

Abstract

ADAMTSL4 is the most important known causative gene in isolated EL. Mutations in ADAMTSL4 appear to cause earlier manifestation of EL and are associated with increased axial length as compared to FBN1. We suggest that ADAMTSL4 be screened in all patients with isolated EL and that physicians be vigilant for the more severe ocular phenotype associated with mutations in this gene.