Highlights: Optic nerve hypoplasia develops during neonatal stage. Optic nerve hypoplasia is related to a gene called CASK. It is a complex neuropathology of the subcortical visual system.

“In optic nerve hypoplasia, we think the connections might be broken,” Fox said. The preliminary data from Mukherjee and Fox’s research suggest that there is indeed a connectivity problem.

Optic Nerve Hypoplasia Is a Pervasive Subcortical Pathology of Visual System in Neonates. Investigative Opthalmology & Visual Science , 2017; 58 (12): 5485 DOI: 10.1167/iovs.17-22399 Cite This Page : ...

If optic nerve hypoplasia is suspected in a child, the utmost priority should be given to evaluation of pituitary hormone levels, given the potentially life-threatening consequences, ...

Optic nerve hypoplasia may present as a unilateral or bilateral disorder. Fundus examination may reveal a double-ring sign, vascular tortuosity, optic nerve pallor, or an enlarged cup.

No evidence to support stem cell therapy for pediatric optic nerve hypoplasia. ScienceDaily . Retrieved June 2, 2025 from www.sciencedaily.com / releases / 2013 / 10 / 131022091803.htm ...

Two-year-old girl presents with poor vision, nystagmus and bilateral optic nerve pallor The patient was a healthy child who exhibited a visual acuity of approximately 20/400 in each eye. Issue ...

To determine whether the ratio of optic disk diameter to disk-to-macula distance (DD/DM) in children with optic nerve hypoplasia (ONH) changes over time. Fifteen subjects (29 eyes) enrolled in a ...

Using whole genome sequencing, researchers were able to determine genetic heterogeneity in patients with optic nerve hypoplasia (ONH), according to a study published in PLoS One.

Macie Morse was born with optic nerve hypoplasia, meaning her optic nerve didn't develop all the way. The only way to repair it was to grow more of the nerve using umbilical cord stem cells.