Nystagmus, Congenital, Strabismus
Conditions
Keywords
strabismus, esotropia, exotropia, nystagmus
Brief 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.
Interventions
GENETICwhole genome sequencing or whole exome sequencing
Whole genome sequencing or whole exome sequencing will be performed for all enrolled participants.
Sponsors
National Eye Institute (NEI)
Boston Children's Hospital
Study design
Observational model
FAMILY_BASED
Time perspective
RETROSPECTIVE
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Genetic variants | 2 years | genetic variants shared by family members with strabismus |
Countries
United States
Contacts
Primary ContactKayleen Cremin, BA
Outcome results
None listed