How eye movement control develops in infantile nystagmus
Development of Oculomotor Circuits in Nystagmus
This research aims to uncover how the brain and eye muscles develop in infants and young children with nystagmus to identify possible treatment targets.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Boston Children's Hospital NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project ID | NIH-11249545 on NIH RePORTER |
What this research studies
Researchers will examine extraocular muscle tissue from children with infantile nystagmus and compare it to an albino mouse model to determine when and how nerve-muscle connections diverge. They will analyze neuromuscular junction size, muscle fiber types, and the forms of acetylcholine receptors to look for signs of ongoing remodeling. The team will also map oculomotor neurons and their premotor inputs to understand central circuit development during the first weeks of life. Results will be used to pinpoint biological steps that could be targeted by future therapies to improve eye control and vision.
Who could benefit from this research
Good fit: Ideal candidates are infants and young children with infantile nystagmus, especially those undergoing eye muscle surgery or who have associated retinal or optic nerve conditions such as albinism.
Not a fit: People with adult-acquired nystagmus from stroke or other non-congenital causes may not directly benefit from findings focused on infant developmental mechanisms.
Why it matters
Potential benefit: If successful, this work could reveal biological targets for new treatments that reduce involuntary eye movements and improve vision and social function for people with infantile nystagmus.
How similar studies have performed: Prior studies, including analyses of patient muscle samples and albino mouse models, have documented structural and receptor changes but translating those findings into therapies remains unproven.
Where this research is happening
Boston, United States
- Boston Children's Hospital — Boston, United States (Active)
Researchers
- Principal investigator: Whitman, Mary Catherine — Boston Children's Hospital
- Study coordinator: Whitman, Mary Catherine
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page below.