Whole genome sequencing unveils genetic heterogeneity in optic nerve hypoplasia.

doi:10.1371/journal.pone.0228622

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Article

Whole genome sequencing unveils genetic heterogeneity in optic nerve hypoplasia.

PloS one - 1 Jan 2020

Dahl Sara, Pettersson Maria, Eisfeldt Jesper, Schröder Anna Katharina, Wickström Ronny, Teär Fahnehjelm Kristina, Anderlid Britt-Marie, Lindstrand Anna

Abstract excerpt

Optic nerve hypoplasia (ONH) is a congenital malformation with a reduced number of retinal ganglion cell axons in a thin optic nerve. It is a common cause of visual impairment in children and ONH is associated with neurodevelopmental disorders, pituitary hormone deficiencies, and brain malformations. In most cases, the aetiology is unknown, but both environmental factors and genetic causes have been described....

Topics

Adolescent
Adult
Child
Comparative Genomic Hybridization
Cross-Sectional Studies
Exons
Female
Genetic Heterogeneity
Genetic Testing
Genome, Human
Heterozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Male

Optic Nerve

Optic Nerve Hypoplasia

Pedigree

Phenotype

Polymorphism, Single Nucleotide

Source

Open in PubMed Open full text

Identifiers

PMID: 32040484
DOI: 10.1371/journal.pone.0228622
PMCID: PMC7010252

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-32040484-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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