Whole genome sequencing of individuals with optic nerve hypoplasia

Takeaway

  • Two genes, COL4A1 and COL4A2, were suggested to be important genetic contributors of optic nerve hypoplasia (ONH).

Why this matters

    ONH is a congenital malformation that causes visual impairment and blindness in children and secondary symptoms such as intellectual disability, autism, and brain malformations.  ONH has a low prevalence of 17.3/100,000 in Sweden. The results of this study will help more individuals with ONH receive a genetic diagnosis in the future.