Genetic Studies of Strabismus, Nystagmus, and Associated Disorders

Boston Children's Hospital400 enrolled

Overview

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 Type

OBSERVATIONAL

Enrollment

400

Conditions

Strabismus Nystagmus, Congenital

Interventions

whole genome sequencing or whole exome sequencingGENETIC

Whole genome sequencing or whole exome sequencing will be performed for all enrolled participants.

Medical Language ↔ Plain English

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

Outcomes

Primary Outcomes

Genetic variants

genetic variants shared by family members with strabismus

Time frame: 2 years

Genetic Studies of Strabismus, Nystagmus, and Associated Disorders

Overview

Conditions

Interventions

Eligibility

Locations (1)

Outcomes

Primary Outcomes

Central Contacts