Improved Locus‐Specific Database for OPA1 Mutations Allows Inclusion of Advanced Clinical Data. Issue 1 (1st December 2014) - Ferré, Marc
Abstract Autosomal dominant optic atrophy (ADOA) is the most common inherited optic neuropathy, due to mutations in the optic atrophy 1 gene (OPA1) in about 60–80% of cases. At present, the clinical heterogeneity of patients carrying OPA1 variants renders genotype‐phenotype correlations difficult. We have developed a clinico‐biological database, aiming to add clinical phenotypes, including detailed ophthalmological and neurological data, related to OPA1 variants (http://opa1.mitodyn.org/).