Genetic Studies of Strabismus, Nystagmus, and Associated Disorders

Boston Children's Hospital

Status: Enrolling

Conditions: Strabismus; Nystagmus, Congenital

Treatments: Genetic: whole genome sequencing or whole exome sequencing

Study type: Observational

Funder types: Other; NIH

Identifiers

NCT04770519

IRB-P00036313

R01EY032539 (U.S. NIH Grant/Contract)

Details and patient eligibility

About

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.

Enrollment: 400 estimated patients

Sex: All

Volunteers: No Healthy Volunteers

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