Genetic Studies of Strabismus, Nystagmus, and Associated Disorders

Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
AgeNot listed
SponsorBoston Children's Hospital

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 volunteers

Qualifiers

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

Design model

Family-based

Time perspective

Retrospective

Treatments tested in this trial

  • whole genome sequencing or whole exome sequencing

    Genetic

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

Treatment groups

No treatment groups listed

Trial outcomes

Primary outcomes

1

Genetic variants

genetic variants shared by family members with strabismus

Time frame
2 years

Secondary outcomes

Other outcomes

Sponsors and contacts

Click on the lead sponsor to view all of their trials.

Boston Children's Hospital

Lead sponsor

National Eye Institute (NEI)

Collaborator