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

  • End date
    Jan 19, 2027
  • participants needed
  • sponsor
    Boston Children's Hospital
Updated on 19 September 2021


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.


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.

Condition Strabismus Congenital, congenital strabismus, Sixth Nerve Palsy, Horizontal Gaze Palsy With Progressive Scoliosis, EYE DISORDER, eye movement disorders, Geniculate Ganglionitis, Oculomotor Nerve Paralysis, Facial Palsy, Dry Eye Disease, Internuclear Ophthalmoplegia, Levator-Medial Rectus Synkinesis, Eye Disorders/Infections (Pediatric), Vagus Nerve Paralysis, Fifth Nerve Palsy, Eye Disorders/Infections, MOEBIUS SYNDROME, Hypoglossal nerve disorder, Horizontal Gaze Palsy, Duane's Syndrome, Congenital Fibrosis of Extraocular Muscles, Fourth Nerve Palsy, Athabaskan Brainstem Dysgenesis, Synkinesis, Marcus Gunn Syndrome, Eye Disease, Glossopharyngeal Neuralgia, Facial Paresis, Hereditary, Congenital, facial paralysis, Tongue Paralysis, Accessory nerve disorder
Clinical Study IdentifierNCT03059420
SponsorBoston Children's Hospital
Last Modified on19 September 2021


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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
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