期刊
OPHTHALMIC GENETICS
卷 39, 期 5, 页码 648-651出版社
TAYLOR & FRANCIS INC
DOI: 10.1080/13816810.2018.1509353
关键词
ACO2; aconitase 2; mitochondrial; neuroophthalmology; ophthalmology; optic atrophy; optic neuropathy; pediatric ophthalmology
资金
- NHMRC [CRE APP1116360]
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.
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