Journal
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
Volume 48, Issue 1, Pages 194-202Publisher
ASSOC RESEARCH VISION OPHTHALMOLOGY INC
DOI: 10.1167/iovs.06-0632
Keywords
-
Categories
Funding
- NATIONAL EYE INSTITUTE [P30EY000331, R01EY008313, R01EY013583] Funding Source: NIH RePORTER
- NATIONAL INSTITUTE ON DEAFNESS AND OTHER COMMUNICATION DISORDERS [P50DC005224] Funding Source: NIH RePORTER
- NEI NIH HHS [EY08313, R01 EY013583, R01 EY008313, P30 EY000331, EY00331, EY13583] Funding Source: Medline
- NIDCD NIH HHS [P50 DC005224] Funding Source: Medline
Ask authors/readers for more resources
PURPOSE. High-resolution, multipositional magnetic resonance imaging (MRI) was used to demonstrate extraocular muscles (EOMs) and associated motor nerves in Duane retraction syndrome (DRS) linked to the DURS2 locus on chromosome 2. METHODS. Five male and three female affected members of two autosomal dominant DURS2 pedigrees were enrolled in the study. Coronal T-1-weighted MRI of the orbits was obtained in multiple gaze positions, as well as with heavy T-2 weighting in the plane of the cranial nerves. MRI findings were correlated with motility. RESULTS. All subjects had unilateral or bilateral limitation of abduction, or of both abduction and adduction, with palpebral fissure narrowing and globe retraction in adduction. Orbital motor nerves were typically small, with the abducens nerve (cranial nerve [CN]6) often nondetectable. Lateral rectus (LR) muscles were structurally abnormal in seven subjects, with structural and motility evidence of oculomotor nerve (CN3) innervation from vertical rectus EOMs leading to A or V patterns of strabismus in three cases. Four cases had superior oblique, two cases superior rectus, and one case levator EOM hypoplasia. Only the medial and inferior rectus and inferior oblique EOMs were spared. Two cases had small CN3s. CONCLUSIONS. DRS linked to the DURS2 locus is associated with bilateral abnormalities of many orbital motor nerves, and structural abnormalities of all EOMs except those innervated by the inferior division of CN3. The LR may be coinnervated by CN3 branches normally destined for any other rectus EOMs. Therefore, DURS2-linked DRS is a diffuse congenital cranial dysinnervation disorder involving but not limited to CN6.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available