About this trial
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
This trial does not accept healthy volunteersQualifiers
None
Disqualifiers
paralytic strabismus in affected family members
Trial 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.
Trial design
Family-based
Retrospective
Treatments tested in this trial
whole genome sequencing or whole exome sequencing
GeneticWhole genome sequencing or whole exome sequencing will be performed for all enrolled participants.
Treatment groups
Trial outcomes
Primary outcomes
Genetic variants
genetic variants shared by family members with strabismus
Sponsors and contacts
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Boston Children's Hospital
Lead sponsor
National Eye Institute (NEI)
Collaborator