10/30/2025
👶👀 A research study by Boston Children’s Hospital Ophthalmology scientists led by Drs. Vemula and Whitman offers new evidence to understand infantile nystagmus syndrome (INS), a condition that causes involuntary eye movements before babies are six months old. Historically, scientists believed that INS is a result of poor vision but these experiments show something different: the issue may be related to the development of motor neurons that send signals from the brain to the muscles that move your eyes.
Researchers found these defects in albino mice with nystagmus:
• As early as the first week after birth, the nerve “landing zone” on horizontal eye muscles is too narrow, indicating not enough connections being made on the muscles.
• By the second week, the nerve endings themselves are not developing properly and have less of a key protein (synaptophysin) that helps them send signals.
• Around week three, each nerve-muscle junction has fewer of the muscle cell “command centers” that normally sit beneath it, making the junctions weaker.
• In the brainstem, there are abnormalities in the proportion of “slow” and “fast” motor neurons, which control different types of eye movements.
All these defects appear before eye-opening, so are not caused by poor vision, indicating nystagmus stems from early nerve-wiring errors and highlighting the nerve-to-muscle junction as a treatment target.✨👁️
Sampath Vemula, Abdikheyre Osman, Xiguang Yang, Gabriel Aronchik, Mayra Martinez Sanchez, Nafiza Meher, Mary C. Whitman; Disrupted Motor Neuron and Neuromuscular Junction Development in an Albino Mice Model of Infantile Nystagmus. Invest. Ophthalmol. Vis. Sci. 2025;66(9):25. https://doi.org/10.1167/...