This page is dedicated to the Infantile Esotropia 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 Esotropia research study, established at Boston Children’s in 2022 and led by Dr. Mary Whitman, has already enrolled 25 patients and their families. The study aims to identify genetic causes of infantile esotropia and provide personalized medicine. 

Disease information

Infantile esotropia is a form of strabismus (misaligned eyes) where one or both eyes turn inwards towards the nose. It can result in loss of vision and depth perception. 

While the causes of infantile esotropia are still being studied, genetic causes have been found to have an increasingly important role. Learn more about infantile esotropia at Boston Children’s.

Key outcomes

To date, 67% of patients have had candidate findings that are being further researched.

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.

Investigator

Mary Whitman, MD, PhD,

Divisions

Notable publications by investigators

  1. Presence of Copy Number Variants Associated With Esotropia in Patients With Exotropia.
  2. Genetics of strabismus.
  3. Recurrent Rare Copy Number Variants Increase Risk for Esotropia.
  4. Genome-Wide Association Study Identifies a Susceptibility Locus for Comitant Esotropia and Suggests a Parent-of-Origin Effect.
  5. Bifocals Fail to Improve Stereopsis Outcomes in High AC/A Accommodative Esotropia.
  6. Strabismus in Genetic Syndromes: A Review.

Disease support organizations

American Association for Pediatric Ophthalmology & Strabismus (AAPOS)

AAPOS is the American Association for Pediatric Ophthalmology and Strabismus. The organization's goals are to advance the quality of children's eye care, support the training of pediatric ophthalmologists, support research activities in pediatric ophthalmology, and advance the care of adults with strabismus.

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