A sibling study of isolated optic neuropathy associated with novel variants in the ACO2 gene. (3rd September 2018)

• Record Type: Journal Article
• Authors: Kelman, Julian C.; Kamien, Benjamin A.; Murray, Natalia C.; Goel, Himanshu; Fraser, Clare L.; Grigg, John R.
• Is Part Of: Ophthalmic genetics. Volume 39:Number 5(2018)
• Page Start: 648
• Page End: 651
• Publication Date: 2018-09-03
• Subjects: ACO2 -- aconitase 2 -- mitochondrial -- neuro-ophthalmology -- ophthalmology -- optic atrophy -- optic neuropathy -- pediatric ophthalmology; Eye -- Diseases -- Genetic aspects -- Periodicals; Eye Diseases -- genetics -- Periodicals; Eye Diseases -- in infancy & childhood -- Periodicals; 617.7
• DOI: 10.1080/13816810.2018.1509353
• Languages: English
• ISSNs: 1381-6810

Abstract

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.