Different Laterality in Hereditary Monozygotic Twins with Duane Retraction Syndrome Type I: A Case Report

ABSTRACTPurpose: To report the results of botulinum toxin (BOTOX®, Allergan) type A (BTA) bilateral injection in the treatment of Duane retraction syndrome (DRS) type 1 in patients aged up to 3 years.Methods: We studied the results of BTA bilateral injection in eight consecutive patients with DRS type 1 and esotropia in primary gaze. Average follow-up was 74 ± 71 months. The main variables analyzed were horizontal and vertical deviation and face turn. Patients were anesthetized with nitrous oxide (N2O). A mean dosage of 5.6 ± 1.8 IU (range 2.5–7.5 IU) of botulinum toxin diluted in 0.9% saline solution was injected under electromyography control in each medial rectus muscle.Results: Seven patients had one affected eye and one patient had bilateral involvement. The mean preoperative esotropia was 32 ± 10 prism diopters (PD). Three patients (37.5%) had also a vertical deviation. All patients had face turn ranging between 15° and 45° before BTA injection. In the last follow-up, 4 patients were orthotropic (50%), 1 (12.5%) had 3 PD exotropia and 3 (37.5%) had esotropia averaging 25 PD mean. The 3 esotropic patients needed surgical correction. Vertical strabismus improved in 3 patients achieving complete resolution in one of these patients. Two patients, without vertical strabismus before the BTA injection, developed a 5-PD vertical deviation, one of them required surgery. Face turn improved in all patients.Conclusion: Botulinum toxin injection is an alternative treatment for patients with DRS type 1 presents esotropia and face turn in children up to 3 years of age.

To measure the change in horizontal excursion and improvement of abduction in Duane's retraction syndrome type I after transposition of both vertical rectus muscles and recession of the medial rectus muscle in the affected eye. This was a retrospective study of patients undergoing surgery for Duane's retraction syndrome type I. Thirty-six patients were treated by transposition of both vertical rectus muscles in combination with medial rectus recession of the affected eye. Head posture, binocular vision, abduction and adduction of the affected eye, and angle of strabismus were measured before and after surgery. After surgery, abduction improved by 15.9 degrees +/- 8.1 degrees (mean +/- standard deviation) and adduction decreased by 5.9 degrees +/- 7.2 degrees. Horizontal excursion improved from 43.1 degrees +/- 8.8 degrees to 53.1 degrees +/- 11.8 degrees. One patient had signs of anterior segment ischemia (ie, enlarged, fixed oval pupil and cells in the anterior chamber), which disappeared after local steroid eye drops were administered. Surgery enlarges the range of horizontal excursion of the affected eye and causes only a limited decrease in adduction. One patient developed transient anterior segment ischemia. Vertical muscle transposition combined with medial rectus recession is an effective procedure to improve horizontal excursion and abduction in patients with Duane's retraction syndrome type I.

Duane retraction syndrome (DRS) is known to relate to the absence of the abducens nucleus, with abnormal innervation of the lateral rectus (LR) muscle by branchesof the oculomotor nerve (CN III). The purposes of this study were to investigate the morphological characteristics of the oculomotor nerve (CN III), the abducens nerve (CN VI), and the extraocular muscles in patients with clinically diagnosed Duane retraction syndrome (DRS) using MRI. In addition, we assessed the association between ocular motility, horizontal rectus muscle volumes, and CN III/VI in patients with Duane retraction syndrome (DRS). The study comprised 20 orthotropic control subjects (40 eyes) and 42 patients with Duane syndrome (48 eyes), including 20 patients with DRS Type I (24 eyes), 5 patients with DRS Type II (6 eyes), and 17 patients with DRS Type III (18 eyes). Three-dimensional (3D) T1/2 images of the brainstem and orbit were obtained to visualize the cranial nerves, especially the abducens (VI) and oculomotor (III) nerves, as well as extraocular muscles. Based on the clinical classification, among 42 patients, MRI showed that the abducens nerves (CN VI) on the affected side were absent in 24 of 24 eyes (100%; 20 patients) with Type I DRS and in 16 of 18 eyes (88%; 16 patients) with Type III DRS. However, CN VI was observed in 6 of 6 eyes (100%; 5 patients) with Type II DRS and in 2 of 18 eyes (11%) with Type III DRS. CN III was observed in all patients. The oculomotor nerves on the affected side were thicker than those on the nonaffected contralateral side in DRS Type I ( P < 0.05) and Type III ( P < 0.05), but not in DRS Type II. Smaller LR and larger MR volumes were shown in the affected eye than that in the nonaffected eye in DRS Types I and III. Based on the presence or absence of CN VI, there was a tendency for thicker oculomotor nerves in the affected eye than in the nonaffected eye in the absence groups ( P < 0.05). However, no significant difference was found in the present group. In the CN VI absence groups, similar results were found in the affected eyes than in the nonaffected eyes as in DRS Types I and III. In addition, the presence of CN VI was correlated with better abduction ( P = 0.008). The LR and MR volumes have positive correlations with the oculomotor nerve diameter in the affected eye. However, there was no correlation between the range of adduction/abduction and the LR/MR ratio in patients with or without an abducens nerve. Different types of DRS have different characteristic appearances of CN VI and CN III on MRI. Horizontal rectus muscles have morphological changes to adapt to dysinnervation of CN VI and aberrant innervation of CN III. Thus, these neuroimaging findings may provide a new diagnostic criterion for the classification of DRS, improving the comprehension of the physiopathogenics of this disease.

Introduction : Various surgical approaches have been proposed to address the challenge in managing abduction deficit in Duane Retraction Syndrome (DRS) Type I, with no clear guidelines to achieve optimal result. This report aims to describe the outcome of combining medial rectus (MR) recession and modified Nishida procedure to improve abduction in DRS Type I.&#x0D; Case Illustration : Twenty six year-old female came with inability to abduct her left eye (LE) since early childhood and an abnormal left head turn. No complaints of double vision nor visual impairment. There was -5 abduction on LE with a noticeable narrowing of vertical palpebral fissure during adduction. Prism alternate prism cover test shared a 30 PD esotropia with normal anterior and posterior segment. Patient was assessed with DRS Type I of LE and managed with 5mm MR recession combined with modified Nishida procedure (vertical rectus transposition without tenotomy and muscle splitting). On postoperative day 1 and last follow-up (1 year), the alignment was ortophoric, abduction improvement of -2, and diminished anomalous head posture.&#x0D; Discussion : Although studies have only reported successful cases of modified Nishida procedure in CN VI palsy, it can be assumed that the procedure can also be implemented to treat lateral rectus muscle innervation abnormality such as in DRS type I. Surgical intervention may not normalize abduction deficit. However, the procedure successfully corrects ocular alignment, eliminates anomalous head posture, and able to improve abduction with no complications.&#x0D; Conclusion : Modified Nishida procedure can be implemented as an alternative in managing DRS type I with relatively satisfactory result.

We report a single case study of concordant bilateral Duane's Retraction Syndrome (DRS) (type 1) in female monozygotic (MZ) twins aged 47 years. The twin pair were recruited through the Australian Twin Registry as part of a twin study on myopia. This twin pair were full term and had a similar birth weight: 2.27 kg and 1.81 kg in twin 1 and twin 2, respectively. There was no report of any other childhood medical conditions in either twin. Both twins had an equal amount of restriction in right and left abduction. Narrowing of the palpebral fissures and globe retraction in right and left adduction was also observed in both twins. To our knowledge this is the first case to report concordant bilateral DRS (type 1) in female MZ twins. The concordance for the presence of DRS and associated clinical signs observed in this MZ twin pair supports a genetic origin to DRS.

BackgroundWe have previously reported that the presence of the abducens nerve was variable in patients with type 3 Duane’s retraction syndrome (DRS), being present in 2 of 5 eyes (40%) and absent in 3 (60%) on magnetic resonance imaging (MRI). The previous study included only 5 eyes with unilateral DRS type 3.ObjectivesTo supplement existing scarce pathologic information by evaluating the presence of the abducens nerve using high resolution thin-section MRI system in a larger number of patients with DRS type 3, thus to provide further insight into the pathogenesis of DRS.Data ExtractionA retrospective review of medical records on ophthalmologic examination and high resolution thin-section MRI at the brainstem level and orbit was performed. A total of 31 patients who showed the typical signs of DRS type 3, including abduction and adduction deficit, globe retraction, narrowing of fissure on adduction and upshoot and/or downshoot, were included. The abducens nerve and any other extraocular muscle abnormalities discovered by MRI were noted.ResultsDRS was unilateral in 26 patients (84%) and bilateral in 5 patients (16%). Two out of 5 bilateral patients had DRS type 3 in the right eye and DRS type 1 in the left eye. Of the 34 affected orbits with DRS type 3 in 31 patients, the abducens nerve was absent or hypoplastic in 31 eyes (91%) and present in 3 eyes (9%). Patients with a present abducens nerve showed more limitation in adduction compared to patients with an absent abducens nerve (P = 0.030).ConclusionsThe abducens nerve is absent or hypoplastic in 91% of DRS type 3. Patients with a present abducens nerve showed more prominent limitation of adduction. As DRS type 3 partly share the same pathophysiology with type 1 and 2 DRS, the classification of DRS may have to be revised according to MRI findings.

Duane retraction syndrome (DRS) is a congenital cranial dysinnervation disorder that is characterized by paradoxical lateral rectus muscle innervation of the affected eye by axons meant to innervate the ipsilateral medial rectus muscle, with resultant varying degrees of co-contraction. It is characterized by severe abduction deficiency, variable limitation of adduction, globe retraction with narrowing of the palpebral fissure, and oblique elevation or depression on adduction. A total of 16 patients with unilateral DRS were identified. The mean age was 13 ± 8 years (range: 6 to 28 years). There were 5 males and 11 females. The cohort included 8 patients with DRS type I, 3 patients with DRS type II, 4 patients with DRS type III, and 1 patient with synergistic divergence (DRS type IV). The mean width of the palpebral fissure in primary gaze was 9.95 ± 0.25 mm, increased in abduction to 11.11 ± 1.16 mm, and changed on adduction to 10.03 ± 1.19 mm. The mean reduction in the size of the palpebral fissure on adduction was 11.7 ± 10.2% (range: 0 to 30%). The difference in the palpebral fissure width between adduction and abduction was statistically significant (P = .0018). Of the 16 patients, 8 (50%) showed narrowing of the palpebral fissure of the contralateral eye on adduction compared to abduction of more than 10%. In this case series of unilateral Duane retraction syndrome, there was a common association between widening of the palpebral fissure of the unaffected eye and adduction of the eyes with DRS in DRS types II, III, and IV and DRS type I with upshoot or downshoot. [J Pediatr Ophthalmol Strabismus. 2023;60(3):e22-e25.].

Full Vertical Rectus Muscle Transposition Combined with Medial Posterior Fixation Sutures for Patients with Adduction Deficiency

Auditory brainstem response and otoacoustic emissions in Duane retraction syndrome

Purpose: The aim was to study the clinical characteristics of Duane's retraction syndrome (DRS) in Nepalese patients.Method: Medical records from 52 cases of DRS from May 2003 to April 2010 were retrospectively reviewed for age, gender, laterality and clinical characteristics. Forty‐one case records (78.8 per cent) that had complete clinical findings were considered for further evaluation. Examination included visual acuity by Snellen chart, refraction, associated horizontal and vertical strabismus in primary gaze, upshoot and downshoot on attempted adduction, binocular vision assessed with the Worth four‐dot test on adopted gaze and stereopsis examined with the Titmus stereo test.Results: DRS type I was the most common type observed in 73.2 per cent of cases, followed by DRS type II (14.6 per cent) and DRS type III (12.2 per cent). It was more common in female patients (58.5 per cent) than male patients (χ2= 4.6, df = 1, p = 0.03). DRS was more common in the left eye (68.3 per cent) than the right eye and unilaterally present in 95.1 per cent of subjects. In primary gaze, orthotropia (41.5 per cent) was more common than exotropia (34.1 per cent) and esotropia (24.4 per cent) and vertical strabismus was present in 24.4 per cent of subjects. Upshoot and downshoot on attempted adduction was seen in 14.6 and 9.8 per cent, respectively. Binocular single vision was present in 68.3 per cent of subjects by Worth four‐dot test at near. Stereopsis of 3,000 seconds of arc was present in 9.8 per cent, 100 to 200 seconds of arc in 14.6 per cent and 40 to 60 seconds of arc in 43.9 per cent with the Titmus stereo test.Conclusion: DRS is more common in female patients and the left eye. DRS type I is the most common type.

To investigate the new surgical method and effect of treatment of Duane's retraction syndrome by recession of medial and lateral rectus muscles combined with Y-splitting procedure. Eight patients with Duane retraction syndrome underwent surgery. Among seven cases of normal direction Duane's retraction syndrome, Six patients were performed recession of medial and lateral rectus muscles with Y-splitting of lateral rectus muscle, one patient was performed recession and Y-splitting of lateral rectus muscle. One patient with inverse Duane's retraction syndrome was performed bilateral recession of medial and lateral rectus muscles combined with Y-splitting of both medial rectus muscles. All patients were followed up 1 to 12 months. Ocular alignment, ocular motility and change of compensatory head posture were evaluated. The compensatory head posture, upshoot or downshoot were eliminated. Globe retraction and narrowing of palpebral fissure got improved. Postoperative ocular alignment of 6 cases achieved orthophoria, with 2 cases of residual strabismus. Recession of medial and lateral rectus muscles combined with Y-splitting procedure is an effective method for treatment of Duane's retraction syndrome, aiming at correction of ocular deviation and head posture and elimination of globe retraction.

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A case of bilateral Duane's retraction syndrome type III, associated with panhypopituitarism, is reported. The patient presented with a congenital esotropia of more than 35o, and spontaneously attained parallelism of the visual axes by the age of five years. It is suggested that a common embryogenic disturbance is responsible for both the pituitary deficiency and Duane's syndrome in this case.

To analyze the clinical manifestations and the methods and effects of surgical management on Duane's Retraction Syndrome (DRS). 67 cases with DRS were summarized retrospectively. The data were recorded and analysed, including sex, age, type, clinical features, surgical methods and the results. 63 cases had only monocular involvement. The number of Type I DRS was 47 cases (35 cases with esotropia, 12 cases with exotropia). 8 cases were Type II DRS with exotropia and 12 cases were Type III DRS (11 of them with exotropia). In 37 cases with upshoot and/or downshoot phenomenon, 31 of them were associated with exotropia. Ipsilateral medial rectus or lateral rectus recession, or bilateral medial rectus recession, improved the head compensation position, narrow palpebral fissure and globe retraction, with improvement or elimination of the deviation. After the operation, 60 cases (90%) showed horizontal tropia less than 10 prism diopters. Upshoot and/or downshoot were improved in all of the 37 cases after recessing medial or/and lateral recti, or simultaneously weakening of the inferior oblique muscle. Weakening medial and/or lateral recti can improve the clinical manifestations of DRS. Upshoot and downshoot are more common in eyes with exotropia. Lateral rectus recession is the main treatment method for relieving upshoot and downshoot in DRS with exotropia. We infer that the upshoot and downshoot phenomenon mainly related to the "bridle" effect. Recession of both horizontal recti can improve the serious clinical manifestations.

Purpose: To study the magnetic resonance imaging (MRI) findings in Duane retraction syndrome (DRS). Materials and Methods: In this case–control study, 16 consecutive cases of Duane syndrome underwent MRI of the brain and orbit, after informed consent. MRI (fast imaging enhancing state acquisition) was done with special focus on pontomedullary junction to look for the status of abducens nerve and associated abnormalities along with quasi-coronal sections of orbit to estimate thickness and cross sectional area of horizontal extra-ocular muscles (EOMs). Thickness and cross-sectional area of EOMs were compared to the contralateral side and to age-matched controls. Results: Of 16 cases, 14 had DRS Type I, and 2 had DRS Type II. MRI revealed absent abducens nerve on the ipsilesional side in 12 out of 14 in DRS I, whereas two DRS II patients revealed intact abducens nerve on the affected side. Thickness and cross-sectional area of the horizontal recti was statistically comparable to the contralateral side and age-matched controls. Conclusions: All the DRS patients in study had structurally normal horizontal recti muscles, whereas 12 out of 14 of DRS-I patients had an absent abducens nerve on MRI.