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...
Topics
- Humans
- Exome Sequencing
- Multifactorial Inheritance
- Female
- Male
- Mutation
- Optic Nerve Hypoplasia
- Retinal Ganglion Cells
- Exome
- Cohort Studies
- Child