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.
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