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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....

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Identifiers

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

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Source receipt: pubmed, retrieved 7 Sept 2026.

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