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

Boston Children's Hospital

Status: Enrolling

Conditions: Ocular Motility Disorders; Duane Radial Ray Syndrome; Marcus Gunn Syndrome; Twelfth Nerve Disorder; Duane Retraction Syndrome; Vagus Nerve Paralysis; Seventh Nerve Palsy; Congenital Fibrosis of Extraocular Muscles; Facial Paresis, Hereditary, Congenital; Horizontal Gaze Palsy With Progressive Scoliosis; Brown Syndrome; Eleventh Nerve Disorder; Strabismus Congenital; Fifth Nerve Palsy; Levator-Medial Rectus Synkinesis; Fourth Nerve Palsy; Sixth Nerve Palsy; Ninth Nerve Disorder; Athabaskan Brainstem Dysgenesis; Horizontal Gaze Palsy; Tongue Paralysis; Mobius Syndrome; Synkinesis; Moebius Sequence; Facial Palsy; Third Nerve Palsy

Study type: Observational

Funder types: Other; NIH

Identifiers

NCT03059420

R01EY015298 (U.S. NIH Grant/Contract)

05-03-036R

Details and patient eligibility

About

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.

Full 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.

Enrollment: 20,000 estimated patients

Sex: All

Ages: 1+ day old

Volunteers: No Healthy Volunteers

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.