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Article

Retinopathy and optic atrophy: Expanding the phenotypic spectrum of pathogenic variants in the AARS2 gene.

Ophthalmic genetics - 1 Jan 2000

Peragallo Jason H, Keller Stephanie, van der Knaap Marjo S, Soares Bruno P, Shankar Suma P

Abstract excerpt

BACKGROUND: Optic atrophy may be the sequela of optic nerve injury due to any insult, including isolated and syndromic genetic diseases. Alanyl-tRNA synthetase 2 (AARS2) pathogenic variants have been reported to cause leukodystrophy with ovarian failure, and cardiomyopathy (#615889) as well as combined oxidative phosphorylation deficiency-8 (#614096). We report a young child who presented with decreased vision...

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Source

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Identifiers

PMID: 28820624
DOI: 10.1080/13816810.2017.1350723
PMCID: PMC6104516

Genes

AARS2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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