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 co...
Topics
- Alanine-tRNA Ligase
- Child, Preschool
- Genetic Testing
- Humans
- Leukoencephalopathies
- Magnetic Resonance Imaging
- Male
- Mutation, Missense
- Optic Atrophy
- Phenotype
- Retinal Diseases
- Visual Acuity
- Exome Sequencing