NCT04770519Recruiting

Genetic Studies of Strabismus, Nystagmus, and Associated Disorders

Boston Children's Hospital

Start Date

9/3/2021

Completion Date

12/1/2030

Summary

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.

Eligibility Criteria

Age Range: No minimum to No maximum

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

Interventions

GENETIC

whole genome sequencing or whole exome sequencing

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Conditions

StrabismusNystagmus, Congenital

Locations

Boston Children's Hospital

Boston, Massachusetts 02115

United States