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Genetic Studies of Strabismus​: Now Recruiting

We know that strabismus tends to run in families, but we have not identified any specific genes that cause the most common types of strabismus. The Whitman Lab is currently recruiting patients with strabismus for genetic studies, to identify genes or genetic changes associated with strabismus.

Who are we recruiting?

We are recruiting two different groups of patients:

  1. Families in which three or more individuals have strabismus (can be any combination of relatives — children, parents, grandparents, aunts, uncles, or cousins). For these families we aim to enroll both affected and unaffected family members, to determine which genetic variants are shared by affected individuals but not by unaffected individuals in the family.
  2. Children with infantile esotropia and their parents and siblings. Infantile esotropia is a condition of crossed eyes that starts before the age of 12 months. Often these children need eye muscle surgery. These families will be analyzed as part of the Boston Children’s Hospital Children’s Rare Disease Cohorts Initiative.

What is required for participation?

Participants need to provide a sample for genetic analysis — either a cheek swab, a saliva sample, or a blood sample. A blood sample can be collected when blood is being drawn for other reasons. Cheek swabs or saliva samples can be collected at home; if interested we will mail you the kit, complete with return labels and postage paid.

Participants also need to answer some questions about their medical histories and allow the research team to see their medical records. In some cases, family members who are not Boston Children’s patients may be asked to come in for a brief ophthalmological exam.

What is done with the samples?

Genetic samples are analyzed using either whole exome or whole genome sequencing. Whole exome sequencing sequences all of the regions of DNA that code for proteins; whole genome sequencing sequences all of the DNA. We then analyze the sequences looking for genetic variants common to individuals with strabismus.

What do we hope to learn?

We are hoping to identify genetic variants that cause or contribute to strabismus. Knowing the genes that contribute to strabismus will allow us to better understand how and why strabismus develops, which is the first step toward developing new treatments or ways to prevent strabismus.

Who do I contact if I am interested in learning more?

Contact the Principal Investigator, Dr. Mary Whitman, by email at mary.whitman@childrens.harvard.edu or by phone at 617-919-2562.