Genetic Studies of Strabismus, Congenital Cranial Dysinnervation Disorders (CCDDs), and Their Associated Anomalies

Genetic Studies of Strabismus, Congenital Cranial Dysinnervation Disorders (CCDDs), and Their Associated Anomalies


Lead Sponsor: Boston Children's Hospital

Collaborator: Howard Hughes Medical Institute
National Eye Institute (NEI)

Source Boston Children's Hospital
Brief Summary

The purpose of this study is to identify genes associated with impaired development and function of the cranial nerves and brainstem, which may result in misalignment of the eyes (strabismus) and related conditions.

Detailed Description

If left untreated or unrecognized, strabismus or misalignment of the eyes, can impair the development of normal vision and is recognized to be an inherited trait in some families. The Engle Lab has investigated the genetics of complex and common strabismus and eyelid movement disorders for over 10 years and the lab's interests have expanded to include Congenital Cranial Dysinnervation Disorders (CCDDs) which are neurological disorders affecting one or more of the 12 cranial nerves. Cranial nerves control bodily functions such as movement of the eyes, transmission of visual information, smell, facial sensation, facial expression, blinking, hearing, balance, taste, chewing and swallowing. Based on genetic studies on individuals with eye movement and eyelid disorders, the lab learned that some individuals have additional ocular defects, vascular, limb and other abnormalities. In addition, in some families relatives who carry the gene mutation may manifest the familial syndrome by having only some additional features but NOT the oculomotility disorder. Therefore, to gain greater understanding of the spectrum of the disorders being investigated, we may also enroll individuals without eye movement or lid defects who have symptoms associated with mutations in congenital cranial dysinnervation disorder (CCDD) genes.

Overall Status Recruiting
Start Date 2004-02-01
Completion Date 2022-01-01
Primary Completion Date 2022-01-01
Study Type Observational
Primary Outcome
Measure Time Frame
Identifying and characterizing genes important in normal development and function of the ocular motility system, cranial nerves and brainstem and associated with congenital cranial dysinnervation disorders and related anomalies. Ongoing
Enrollment 20000

Sampling Method:

Non-Probability Sample


Inclusion Criteria: - The Engle Lab is very interested in enrolling individuals with congenital conditions related to eye movement, cranial nerve and brainstem-based dysfunction, often broadly referred to as congenital cranial dysinnervation disorders (CCDDs). Exclusion Criteria: - Individuals with cranial nerve disorders associated with known disorders, such as Saethre-Chotzen associated with established genetic mutations, or acquired conditions including trauma, stroke, tumor or spinal cord injuries.



Minimum Age:


Maximum Age:


Overall Official
Last Name Role Affiliation
Elizabeth Engle, MD Principal Investigator Boston Children's Hospital
Overall Contact

Last Name: Brenda J Barry, MS

Phone: 617-919-2168

Email: [email protected]

Facility: Status: Boston Children's Hospital
Location Countries

United States

Verification Date


Responsible Party

Type: Principal Investigator

Investigator Affiliation: Boston Children's Hospital

Investigator Full Name: Elizabeth Engle

Investigator Title: Investigator, Howard Hughes Medical Institute; Professor of Neurology and Ophthalmology, Harvard Medical School

Has Expanded Access No
Condition Browse
Patient Data No
Study Design Info

Observational Model: Cohort

Time Perspective: Other

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