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

Julian C. Kelman*, Benjamin A. Kamien, Natalia C. Murray, Himanshu Goel, Clare L. Fraser, John R. Grigg

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

12 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)648-651
Number of pages4
JournalOphthalmic Genetics
Volume39
Issue number5
DOIs
Publication statusPublished - 3 Sept 2018
Externally publishedYes

Keywords

  • ACO2
  • aconitase 2
  • mitochondrial
  • neuro-ophthalmology
  • ophthalmology
  • optic atrophy
  • optic neuropathy
  • pediatric ophthalmology

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