A sibling study of isolated optic neuropathy associated with novel variants in the ACO2 gene

Ophthalmic Genet. 2018 Oct;39(5):648-651. doi: 10.1080/13816810.2018.1509353. Epub 2018 Aug 17.


Inherited optic neuropathy is a rare cause of debilitating vision loss. It may occur in constellation with other syndromic features of neurological impairment, or present as an isolated finding. We describe a sibling pair, without a family history of vision loss, who developed visual impairment in early childhood consistent with optic neuropathy. Genetic testing identified novel compound heterozygous variants in the aconitase 2 (ACO2) gene. To date, seven families hosting ACO2 variants have been described in the literature. We describe the second family with ACO2 variants to have an isolated optic neuropathy highlighting the importance of including this gene in genomic panels assessing inherited optic neuropathies.

Keywords: ACO2; aconitase 2; mitochondrial; neuro-ophthalmology; ophthalmology; optic atrophy; optic neuropathy; pediatric ophthalmology.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aconitate Hydratase / genetics*
  • Child
  • Female
  • Genetic Testing
  • Humans
  • Male
  • Mutation*
  • Optic Nerve Diseases / genetics*
  • Optic Nerve Diseases / pathology*
  • Pedigree
  • Prognosis
  • Siblings


  • ACO2 protein, human
  • Aconitate Hydratase