Actively Recruiting
Study of Genetic Causes in Families with Strabismus and Infantile Nystagmus Using Genome Sequencing
Led by Boston Children's Hospital · Updated on 2025-12-12
400
Participants Needed
1
Research Sites
N/A
Total Duration
AI-Summary
What this Trial Is About
Researchers are studying genetic factors linked to strabismus, a condition where the eyes are misaligned, and congenital nystagmus, an eye movement disorder. The study focuses on families with multiple members affected by these conditions to better understand their genetic causes. The research is observational and aims to identify specific genetic variants that contribute to these eye disorders. Participants include three groups families with at least three members who have strabismus, families with at least one member with infantile esotropia, and families with at least one member with infantile nystagmus. Both affected and unaffected family members will be enrolled. The study involves performing whole genome or whole exome sequencing on all participants to detect genetic variants shared among affected relatives. During the study, participants will provide genetic samples for sequencing. Researchers will analyze the genetic data to identify variants associated with strabismus and nystagmus over a two-year period. The study does not involve treatment but focuses on collecting and studying genetic information to enhance understanding of these conditions. Participation duration and follow-up depend on the sequencing and analysis timeline.
CONDITIONS
Brief Title
Genetic Studies of Strabismus, Nystagmus, and Associated Disorders
Research Team
K
Kayleen Cremin, BA
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