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Article

Trio exome sequencing of an optic nerve hypoplasia cohort reveals evidence for polygenic architecture.

Ophthalmic genetics - 1 Dec 2025

Aparicio Jennifer G, Stachelek Kevin, Garcia-Filion Pamela, Brown Brianne, Stewart Carly, Craig David W, Li Wenhui Laura, Cobrinik David, Borchert Mark

Abstract excerpt

BACKGROUND: Optic nerve hypoplasia (ONH), the leading congenital cause of permanent blindness, is characterized by a retinal ganglion cell (RGC) deficit at birth and frequently associated neurologic and endocrine abnormalities. Multifactorial developmental events are hypothesized to underlie ONH; however, environmental influences are unclear, and genetic causes are under-investigated. METHODS: To identify...

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Identifiers

PMID: 40887606
DOI: 10.1080/13816810.2025.2540400
PMCID: PMC12962389

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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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