Home › Strabismus › NCT04770519

Genetic Studies of Strabismus, Nystagmus, and Associated Disorders

Who can join

All ages · All sexes

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

About the study

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.

What is being tested

• whole genome sequencing or whole exome sequencing (genetic)

Sponsor: Boston Children's Hospital · Participants: 400 · Started: Sep 3, 2021

Contact the study team

• Kayleen Cremin, BA · Phone: 857-292-3768

Official record on ClinicalTrials.gov — NCT04770519

Locations in the U.S.

Conditions

• Strabismus

From ClinicalTrials.gov, data retrieved Sep 30, 2026. Each study sets its own eligibility; the study team decides who can join.