Genetic Studies of Strabismus, Nystagmus, and Associated Disorders

Strabismus (misalignment of the eyes) often runs in families. In this study, the investigators are looking for genetic variants associated with strabismus and nystagmus. Three types of subects will be enrolled: (1) Families with at least 3 members with strabismus, (2) individuals with infantile esotropia and their parents and siblings, and (3) individuals with infantile nystagmus and their parents. Whole exome and/or whole genome sequencing will be used to identify genetic variants shared by family members with strabismus and to identify genetic causes of nystagmus.

Study Overview

• Status: Recruiting
• Conditions: Strabismus; Nystagmus, Congenital
• Intervention / Treatment: Genetic: whole genome sequencing or whole exome sequencing

• Study Type: Observational
• Enrollment (Estimated): 400

Contacts and Locations

• Study Contact: Name: Kayleen Cremin, BA; Phone Number: 857-292-3768; Email: research.whitman@childrens.harvard.edu

Study Locations

• United States
  • Massachusetts
    • Boston, Massachusetts, United States, 02115
      • Recruiting
      • Boston Children's Hospital
      • Contact: Mary Whitman, MD/PhD; Email: mary.whitman@childrens.harvard.edu

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

All willing members of families in which 3 or more biological relatives have strabismus (esotropia, exotropia, or vertical misalignments) with full eye movements, or affected individual has infantile esotropia or infantile nystagmus.

Description

Inclusion Criteria:

- Member of a family with at least 3 biological relatives with strabismus. (Both affected and non-affected family members will be enrolled).

OR

- Member of a family with at least 1 individual with infantile esotropia. (Both affected and non-affected family members will be enrolled).

OR

- Member of a family with at least 1 individual with infantile nystagmus. (Both affected and non-affected family members will be enrolled).

Exclusion Criteria:

• paralytic strabismus in affected family members

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Genetic variants	genetic variants shared by family members with strabismus	2 years

Collaborators and Investigators

• Sponsor: Boston Children's Hospital
• Collaborators: National Eye Institute (NEI)
• Investigators: Principal Investigator: Mary Whitman, MD/PhD, Assistant Professor

Study record dates

Study Major Dates

• Study Start (Actual): September 3, 2021
• Primary Completion (Estimated): December 1, 2030
• Study Completion (Estimated): December 1, 2030

Study Registration Dates

• First Submitted: February 23, 2021
• First Submitted That Met QC Criteria: February 23, 2021
• First Posted (Actual): February 25, 2021

Study Record Updates

• Last Update Posted (Estimated): December 12, 2025
• Last Update Submitted That Met QC Criteria: December 9, 2025
• Last Verified: December 1, 2025

More Information

Terms related to this study

• Keywords: strabismus; nystagmus; esotropia; exotropia
• Additional Relevant MeSH Terms: Nervous System Diseases; Infant, Newborn, Diseases; Eye Diseases; Cranial Nerve Diseases; Ocular Motility Disorders; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Exotropia; Strabismus; Esotropia; Nystagmus, Pathologic; Nystagmus, Congenital; Investigative Techniques; Genetic Techniques; Sequence Analysis; Sequence Analysis, DNA; Whole Genome Sequencing; Exome Sequencing
• Other Study ID Numbers: IRB-P00036313; R01EY032539 (U.S. NIH Grant/Contract)

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: YES
• IPD Plan Description: De-identified genetic data will be deposited in dbGAP (database of genotypes and phenotypes) after publication.
• IPD Sharing Time Frame: At time of publication
• IPD Sharing Access Criteria: de-identified data will be available per dbGAP access policies.

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No