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Article

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

Ophthalmic genetics - 1 Oct 2018

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

Abstract excerpt

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...

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Identifiers

PMID: 30118607
DOI: 10.1080/13816810.2018.1509353

Genes

ACO2

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