Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview

In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993.
[updated ].


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.

Publication types

  • Review