Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview

Abstract

The purpose of this overview is to increase the clinician's awareness of Leber congenital amaurosis (LCA) / early-onset severe retinal dystrophy (EOSRD) and its clinical phenotypes, genetic causes, and management.The following are the goals of this overview. Goal 1 Describe the clinical characteristics of LCA/EOSRD. Goal 2 Review the genetic causes of LCA/EOSRD. Goal 3 Provide an evaluation strategy to identify the genetic cause of LCA/EOSRD in a proband (when possible). Goal 4 Inform (when possible) medical management of LCA/EOSRD based on genetic cause. Goal 5 Inform genetic counseling for LCA/EOSRD.