Ocular Manifestation of CACNA1A Pathogenic Variants

Abstract

Investigators from The Children’s Hospital at Westmead in New South Wales; The Queensland University of Technology in Brisbane; Sydney Children’s Hospital in New South Wales and Laboratoire de Genetique in Paris investigated children with a proven heterozygous missense pathogenic variant in the CACNA1A gene.

Keywords

• cacna1a
• ocular manifestation
• global developmental delay