Kumaran Neruban, Pennesi Mark E, Yang Paul, Trzupek Karmen M, Michaelides Michel
UCL Institute of Ophthalmology, University College London, Moorfields Eye Hospital, London, United Kingdom
Epsom and St Helier University Hospitals NHS Trust, London, United Kingdom
The purpose of this overview is to: 1.. Briefly describe the clinical characteristics of nonsyndromic Leber congenital amaurosis (LCA) / early-onset severe retinal dystrophy (EOSRD); 2.. Review the genetic causes of nonsyndromic LCA/EOSRD; 3.. Review the differential diagnosis of nonsyndromic LCA/EOSRD with a focus on genetic conditions; 4.. Provide an evaluation strategy to identify the genetic cause of nonsyndromic LCA/EOSRD in a proband (when possible); 5.. Inform (when possible) medical management of nonsyndromic LCA/EOSRD based on genetic cause; 6.. Inform risk assessment and surveillance of at-risk relatives for early detection and treatment of nonsyndromic LCA/EOSRD.
