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 language | English |
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Pages (from-to) | 648-651 |
Number of pages | 4 |
Journal | Ophthalmic Genetics |
Volume | 39 |
Issue number | 5 |
DOIs | |
Publication status | Published - 3 Sept 2018 |
Externally published | Yes |
Keywords
- ACO2
- aconitase 2
- mitochondrial
- neuro-ophthalmology
- ophthalmology
- optic atrophy
- optic neuropathy
- pediatric ophthalmology