Improved locus-specific database for OPA1 mutations allows inclusion of advanced clinical data

Hum Mutat. 2015 Jan;36(1):20-5. doi: 10.1002/humu.22703. Epub 2014 Dec 1.


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 difficulty. Since 2005, when we published the first locus-specific database (LSDB) dedicated to OPA1, a large amount of new clinical and genetic knowledge has emerged, prompting us to update this database. We have used the Leiden Open-Source Variation Database to develop a clinico-biological database, aiming to add clinical phenotypes related to OPA1 variants. As a first step, we validated this new database by registering several patients previously reported in the literature, as well as new patients from our own institution. Contributors may now make online submissions of clinical and molecular descriptions of phenotypes due to OPA1 variants, including detailed ophthalmological and neurological data, with due respect to patient anonymity. The updated OPA1 LSDB ( should prove useful for molecular diagnoses, large-scale variant statistics, and genotype-phenotype correlations in ADOA studies.

Keywords: LSDB; OPA1; eOPA1; locus-specific database; optic atrophy 1.

MeSH terms

  • Ataxia / genetics
  • Ataxia / pathology*
  • Blepharoptosis / genetics
  • Blepharoptosis / pathology*
  • Databases, Genetic*
  • Female
  • GTP Phosphohydrolases / genetics*
  • Genetic Association Studies
  • Genetic Heterogeneity
  • Hearing Loss, Sensorineural / genetics
  • Hearing Loss, Sensorineural / pathology*
  • Humans
  • Internet
  • Male
  • Muscular Diseases / genetics
  • Muscular Diseases / pathology*
  • Mutation*
  • Ophthalmoplegia / genetics
  • Ophthalmoplegia / pathology*
  • Optic Atrophy / genetics
  • Optic Atrophy / pathology*
  • Optic Atrophy, Autosomal Dominant / genetics
  • Optic Atrophy, Autosomal Dominant / pathology*


  • GTP Phosphohydrolases
  • OPA1 protein, human

Supplementary concepts

  • Treft Sanborn Carey syndrome