This page is dedicated to the Infantile Nystagmus Syndrome research study, one of 57 studies supported by the Boston Children’s Rare Disease Collaborative (CRDC). For more information about the CRDC, please visit our home page. Established in 2018, the CRDC supports pediatric rare disease research and provides families with genetic diagnoses that enable personalized treatments, including precision medicine and targeted therapies.
The Infantile Nystagmus Syndrome research study, established at Boston Children’s in 2024, is led by Drs. Mary Whitman, Anne Fulton, and Pablo Altschwager Kreft and has enrolled 46 patients and their families. The study aims to identify genetic causes of infantile nystagmus syndrome and provide personalized medicine.
Disease Information
Infantile nystagmus syndrome is a condition in which the eyes make repetitive, uncontrolled movements. These movements often result in reduced vision and depth perception and can affect balance and coordination. Infantile nystagmus can be the first sign of a serious vision condition, such as congenital blindness. These involuntary eye movements can occur from side to side, up and down, or in a circular pattern.
While the causes of infantile nystagmus syndrome are still being studied, genetic causes have been found to have an increasingly important role. Learn more about infantile nystagmus at Boston Children’s.
Key Outcomes
Multiple participants have a definitive genetic diagnosis, and several others have candidate genes.
Genes of Interest
CNGB3 FRMD7 TYR CNGA3 SLC38A8 CACNA1F
Participate in Research
Physicians may refer their patients with infantile esotropia to Dr. Whitman. Once study eligibility is confirmed, a research coordinator will reach out to the family to consent and enroll them. Read more about Dr. Whitman’s studies on the Whitman Lab webpage.
Patient Care
Patients and their families with infantile esotropia can be seen by an expert multidisciplinary team in the Pediatric Strabismus Service at Boston Children’s.
Patient Stories
An infant with infantile nystagmus was evaluated by the team. Genetic testing identified changes in the CNGB3 gene, which causes Achromatopsia . Offering genetic testing right away not only avoided the need to do usual invasive testing for diagnosis but also gave the parents an accurate prognosis that their child would have low vision but normal cognitive functions. This timely prognosis allows the family to be prepared and put low vision supports in place. This case underscores the significance of genetic testing and helping parents be better prepared for their future needs at an early age as 50% of children with infantile nystagmus have underlying eye problems that result in low vision.
The team evaluated a 9-year-old patient presenting with infantile nystagmus and identified a change in the FRMD7 gene, which is known to cause idiopathic infantile nystagmus. This diagnosis is generally associated with good vision for patients with infantile nystagmus. With this discovery, the clinical team was able to provide genetic answers to the parents and reassure them that their child does not have another underlying condition and is expected to have good vision.
Investigators
Division
Notable Publications by Investigators
- Congenital cranial dysinnervation disorder with homozygous KIF26A variant.
- Impaired Extraocular Muscle Innervation Is Present Before Eye Opening in a Mouse Model of Infantile Nystagmus Syndrome.
- Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development.
- Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.
Disease Support Organizations
American Nystagmus Network
American Nystagmus Network is a nonprofit organization dedicated to improving the quality of life for all persons and families affected by nystagmus, through organized community support, education, public awareness, and research.