Congenital cranial dysinnervation disorders are a group of diseases caused by abnormal development of cranial nerve nuclei or their axonal connections, resulting in aberrant innervation of the ocular and facial musculature. Its diagnosis could be facilitated by the development of high resolution thin-section magnetic resonance imaging. The purpose of this review is to describe the method to visualize cranial nerves III, IV, and VI and to present the imaging findings of congenital cranial dysinnervation disorders including congenital oculomotor nerve palsy, congenital trochlear nerve palsy, Duane retraction syndrome, Möbius syndrome, congenital fibrosis of the extraocular muscles, synergistic divergence, and synergistic convergence.
Axons ; Cranial Nerves* ; Diagnosis ; Duane Retraction Syndrome ; Fibrosis ; Magnetic Resonance Imaging ; Methods ; Muscles ; Oculomotor Nerve Diseases ; Trochlear Nerve Diseases

PURPOSE: To present the results of patients undergoing surgical treatment and determine clinical guidelines for the face turn, and up and down shoot in Duane retraction syndrome (DRS). METHODS: Thirty-four patients with DRS were treated with single horizontal rectus muscle recession, lateral rectus (LR) recession with Y-splitting, or LR recession with Y-splitting combined with medial rectus (MR) recession. The different treatment approaches were based on the angle of deviation in the primary position, versions, and ductions. In all patients, ocular alignment, face turn and up and down shoot were assessed preoperatively and postoperatively. RESULTS: The average standard deviation reduced from 18.5 +/- 6.5 prism diopters (PD) to 4.6 +/- 5.8 PD in horizontal rectus muscle recession and 14.4 +/- 5.5 PD to 1.6 +/- 2.8 PD in LR recession with Y-splitting. LR recession with Y-splitting combined with MR recession was effective in reducing globe retraction. Postoperative 4-mm LR recession with Y-splitting did not change ocular alignment; 7-mm LR recession with Y-splitting showed an average correction of 12.8 PD. Postoperatively, all patients presented a reduction in face turn; however, there was no statistically significant difference between the 2 procedures (Mann-Whitney U test, p = 0.620). CONCLUSIONS: Decisions regarding surgical approaches in DRS should be based on the amount of deviation in primary eye position, the expression of up and down shoot, and the degree of face turn. Surgeons planning Y-splitting of LR with MR recession must consider modifying the MR recession amount due to the smaller LR recession effect of Y-splitting compared with conventional LR recession.
Duane Retraction Syndrome ; Eye ; Humans ; Muscles

BACKGROUNDResearches in ocular electromyography (EMG) and Magnetic resonance imaging (MRI) of patients with Duane retraction syndrome (DRS) suggest that there may be additional abnormalities such as paradoxical innervation between horizontal rectus muscles and vertical rectus muscles, hypoplasia of vertical rectus muscle and that oblique muscles may also contribute to the heterogeneity of the clinical manifestation of DRS. This paper reports the results of superior rectus recession for vertical deviation and A pattern in DRS Type III and discusses the pathogenesis of the disease.

METHODSSuperior and lateral rectus recession were performed in 5 cases of Huber type III DRS to treat vertical deviation and A pattern strabismus. Before operation, MRI of the brain, brainstem, cavernous sinus, and orbits were performed.

RESULTSAll subjects had unilateral limitation of both abduction and adduction, with palpebral fissure narrowing and globe retraction in adduction. Three cases had A pattern of strabismus, three cases had hypertropia. The abducens nerves (CN6) were either absent or hypoplasitic in the brainstem in all patients. Two eyes had larger oculomotor foramen. Two eyes had hypoplasia of the superior rectus and the inferior rectus. There was presumably a branch of the third cranial nerve (CN3) innervating the lateral rectus (LR) in one eye. While in another eye, two branches of CN3 sent into medial rectus were revealed. After surgery, vertical deviation in the primary position was reduced in all patients and A pattern was eliminated in 3 patients. One patient developed 10Δ consecutive esotropia postoperatively.

CONCLUSIONThe results suggest that structural abnormalities of vertical muscle and abnormal orbital innervation may be related to vertical deviation and the presence of A pattern in DRS type III. Recession of the superior rectus muscle seems to be a safe and effective treatment for vertical deviation and A pattern strabismus in DRS Type III.

Adolescent ; Child ; Duane Retraction Syndrome ; diagnosis ; Electromyography ; Female ; Humans ; Magnetic Resonance Imaging ; Male ; Young Adult

PURPOSE: To report the clinical characteristics and the results of a series of patients treated with various strabismus surgery techniques for Duane retraction syndrome (DRS). METHODS: Thirty-eight patients with DRS undergoing surgical treatment were retrospectively reviewed. In all patients, ocular alignment, abnormal head posture and ocular motility disturbance were assessed both preoperatively and postoperatively. The patients were treated with appropriate horizontal muscle recession, Y-splitting combined with horizontal muscle recession, medial rectus recession and lateral rectus resection. RESULTS: The incidence of DRS was greater in females and in the left eye. Type 1 was the most common, and esodeviation was seen most frequently in the primary position. The esotropic patients with DRS turned their faces toward the affected eyes, while the exotropic patients with DRS turned away from the affected eyes. The deviation in the primary position was reduced from an average of 15.0 prism diopters (PD) to 1.5PD. The face turn was reduced from an average of 17.5 degrees to 1.2 degrees. CONCLUSIONS: The primary deviation and abnormal head posture found in DRS can be improved by proper preoperative evaluation and adequate choice of surgical methods.
Duane Retraction Syndrome ; Esotropia ; Eye ; Female ; Head ; Humans ; Incidence ; Muscles ; Posture ; Retrospective Studies ; Strabismus

We report a case of pseudo-Duane's retraction syndrome with entrapment of the medial rectus muscle in an old medial orbital wall fracture presenting identical clinical symptoms as Duane's retraction syndrome. A 15-year-old boy presented with persistent limited right eye movement since a young age. Examination showed marked limited abduction, mildly limited adduction, and globe retraction accompanied by narrowing of the palpebral fissure during attempted adduction in the right eye. He showed a right esotropia of 16 prism diopters and his head turned slightly to the right. A slight enophthalmos was noted in his right eye. A computed tomography scan demonstrated entrapment of the medial rectus muscle and surrounding tissues in an old medial orbital wall fracture. A forced duction test revealed a marked restriction of abduction in the right eye. A 5 mm recession of the right medial rectus muscle was performed. Postoperatively, the patient's head turn and esotropia in the primary position were successfully corrected, but there was still some limitations to his ocular movement. The importance of several tests such as the forced duction test and an imaging study should be emphasized in making a diagnosis for limitation of eye movement.
Adolescent ; Diagnosis, Differential ; Duane Retraction Syndrome/*diagnosis/etiology/physiopathology ; Eye Movements/*physiology ; Follow-Up Studies ; Humans ; Male ; Oculomotor Muscles/*physiopathology/surgery ; Ophthalmologic Surgical Procedures/methods ; Orbital Fractures/*complications/diagnosis ; Tomography, X-Ray Computed

No abstract available.
Duane Retraction Syndrome* ; Facial Paralysis ; Mobius Syndrome*

PURPOSE: To report a male infant with bilateral Duane's retraction syndrome treated with bilateral horizontal transpositions of vertical recti to the lateral rectus muscle. METHODS: An 8-month-old boy showed bilateral Duane's retraction syndrome with esotropia of 45PD, severe limitation of abduction (-4 and -3.5 in each eye) and mild globe retraction in both eyes. It was assumed that he inherited the condition from his father through an autosomal dominant pattern. His father showed esotropia of 25PD with -4 limitation of abduction in the left eye and a left head-turn of 10 degrees. He also had +2 globe retraction, +1 upshoot and +2 downshoot in adduction of the left eye. Transposition of two vertical recti to the lateral rectus muscle was performed in both eyes of the boy. RESULTS: Nine months after surgery, the boy had achieved a microesotropia of 6PD in primary gaze with stereopsis of 3000 seconds of arc and considerable improvement in abduction (-2, -1.5 in each eye). The amount of correction of esodeviation was 39PD. This favorable state was maintained at follow-up 3.5 years after surgery. CONCLUSIONS: An 8-month-old boy who had esotropia of 45PD caused by bilateral Duane's retraction syndrome, underwent bilateral horizontal transpositions of vertical recti to the lateral rectus muscle. He achieved a microesotropia of 6PD in primary gaze and considerable improvement of abduction with only mild eyeball retraction.
Depth Perception ; Duane Retraction Syndrome* ; Esotropia ; Fathers ; Follow-Up Studies ; Humans ; Infant ; Male

PURPOSE: To describe the clinical features of Duane's retraction syndrome (DRS) in Korean patients. METHODS: We retrospectively analyzed the 78 DRS cases that presented to our department between 1995 and 2004. The clinical features investigated included sex distribution, laterality, type of presentation, deviation in primary position, anomalous vertical movements, face turn, amblyopia and anisometropia. RESULTS: There were 38 (48.7%) affected males and 40 (51.3%) females. Left eye predominance (83.3%) was observed, as was type I presentation (85.9%). Orthotropia was found to be the most common primary position in 46 cases (59.0%). Face turn in unilateral DRS was noted in 13 patients (17.1%). There were 6 cases (7.7%) with anisometropia and 4 (5.1%) with amblyopia. CONCLUSIONS: The clinical manifestations of DRS in our study were different from those of equivalent Caucasian studies yet similar to those previously reported for Asian groups. Racial and regional differences were noted, for which further research is needed to elaborate the reasons and mechanisms.
Adolescent ; Adult ; *Asian Continental Ancestry Group ; Child ; Child, Preschool ; Duane Retraction Syndrome/*complications/ethnology/*physiopathology ; Esotropia/*complications ; Exotropia/*complications ; Female ; Humans ; Male ; Retrospective Studies

PURPOSE: Klippel-Feil syndrome is defined as the congenital fusion of two or more cervical vertebrae. The clinical features are low posterior hair line, short neck, and limitation of the movement of the head and neck. Wildervanck syndrome, also known as cervicooculoacoustic syndrome, is a rare genetic disorder that primarily affects females. The disorder is characterized by Klippel-Feil syndrome, Duane syndrome and hearing impairment at birth, although one of these symptoms may be lacking. This report describes a case of Klippel-Feil syndrome combined with Duane retraction syndrome, which can be defined as an incomplete form of Wildervanck syndrome. METHODS: A 15-year-old girl with congenitally fused cervical vertebrae at two levels, C2-C4 vertebrae and, C5-C7 vertebrae, was diagnosed as Klippel-Feil syndrome. Ophthalmologic evaluation was needed due to abnormality in ocular motility. RESULTS: Ophthalmologic examination revealed a visual acuity of 0.9 without correction in both eyes. Slit-lamp and fundus examination were normal. Ocular motility examination showed 14 prism diopters right esotropia in primary gaze, limited abduction, globe retraction, and narrowing of the palpebral fissure on adduction of the right eye.
Adolescent ; Cervical Vertebrae ; Duane Retraction Syndrome* ; Esotropia ; Female ; Hair ; Head ; Hearing Loss ; Humans ; Klippel-Feil Syndrome* ; Neck ; Parturition ; Spine ; Visual Acuity

PURPOSE: Duane's retraction syndrome is a congenital eye movement disorder caused by innervational disturbance. It is rare that Duane's retraction syndrome is associated with Goldenhar's syndrome which shows systemic congenital malformations. We report a case of bilateral Duane's retraction syndrome associated with Goldenhar's syndrome, which was treated with strabismus surgery and excision of epibulbar lipodermoid. METHODS: A 14-month-old boy with exotropia showed severe limitation of adduction, mild limitation of abduction, globe retraction and palpabral fissure narrowing on attempted adduction in both eyes. He also had a diffuse small epibulabar mass under the lateral conjunctiva in the left eye. The angle of exodeviation was 45PD on alternate prism cover and uncover test. He had had cleft lip, multiple skin tags on the face and preauricular appendages since birth and undergone an operation for these abnormalities at age of 4 months. Bilateral 7.5mm recession of the lateral recti and excisional biopsy of epibulbar mass of the left eye were performed. RESULTS: A case of Duane's retraction syndrome associated with Goldenhar's syndrome was found. The patient obtained orthophoria in his primary gaze after bilateral recession of lateral recti. The epibulbar mass was consistent with lipodermoid on pathologic examination.
Biopsy ; Cleft Lip ; Conjunctiva ; Duane Retraction Syndrome* ; Exotropia ; Humans ; Infant ; Male ; Ocular Motility Disorders ; Parturition ; Skin ; Strabismus