Unilateral Duane Retraction Syndrome Research Articles

Palpebral Fissure Changes in the Contralateral Eye in Duane Retraction Syndrome

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.].

Clinical characteristics and surgical approach in Duane retraction syndrome: a study of 691 patients.

To evaluate the clinical findings of different types of Duane retraction syndrome (DRS). Retrospective. This study was performed on 691 patients with DRS who underwent surgery. Clinical examinations included laterality, abnormal head posture (AHP), corrected distance visual acuity (CDVA), refractive error, amblyopia, deviation, overshoots, and type of surgery. The mean age of patients with DRS was 16.7 ± 12.5 (range 1.0-73) years. The patients included 396 (57.3%) women and 295 (42.7%) men (P < 0.001). DRS type I, was observed in 429 (62.1%), II in 168 (24.3%), III in 88 (12.7%) and IV in 6 (0.9%) patients. Unilateral DRS was observed OS in 628 (90.9%) [471 (%78.9) and OD in 157 (21.1%) eyes (P < 0.001)]. O ther clinical findings were AHP (n = 522, 78.1%), overshoot (n = 236, 34.2%) and amblyopia (n = 118, 17.1%). The prevalence of overshoot in types I, II, and III was 17.5% (75/429), 60.7% (102/168) and 64.8% (57/88), respectively (P < 0.001). The prevalence of amblyopia was significantly lower in patients with AHP (80/522, 15.3%) compared to patients with normal head posture (38/169, 22.5%) (P = 0.023). The mean angle of deviation in the primary position (PP) at distance was 21.7 ± 11.5 △ for esotropic group and 17.8 ± 12.4 △ for exotropic group. Sixty-two (9.0%) patients required second surgery for resolving residual misalignment (1.1 surgeries for each patient). About two-thirds of DRS patients had AHP, one-third had overshoots, and one-sixth had amblyopia. The results show that different types of DRS are associated with different epidemiological and clinical characteristics.

Duane Retraction Syndrome: The Role of Botulinum Toxin A Injection in Adults and Its Impact on Quality of Life in an Indian Population.

To evaluate the role of botulinum toxin A in the treatment of adults with Duane retraction syndrome and its impact on quality of life. A total of 25 adults with unilateral Duane retraction syndrome were selected for this interventional case series. Botulinum toxin was injected in the appropriate horizontal recti. The parameters assessed were ocular deviation (▵), overshoots, and abnormal head posture. Patients were followed up at 1 day, 10 days, and 3 months after the injection. The outcome was categorized on the basis of deviation/abnormal head posture/overshoots as: (1) significant improvement (< 8 prism diopters [PD]/< 5 degrees/≤ grade 1); (2) partial improvement (8 to 20 PD/5 to 15 degrees/≤ grade 2); and (3) no improvement (> 20 PD/> 15 degrees/≥ grade 3). Patients with partial/significant improvement were considered to have a favorable outcome. The impact on quality of life was assessed using the Adult Strabismus-20 Questionnaire scores 10 days after injection. There was a significant reduction in ocular deviation in esotropic and exotropic Duane retraction syndrome at 10 days (P = .001) and 3 months (P = .04) after botulinum toxin injection. The abnormal head posture improved from 11.58 ± 7.43 to 7.86 ± 6.25 degrees at 10 days. Botulinum toxin had a positive impact on the Adult Strabismus-20 Questionnaire scores, which significantly improved (P < .05) at 10 days. A favorable outcome was noted in 21 patients at 10 days but only 4 patients at 3 months. Three patients developed ptosis and 1 patient with orthotropic Duane retraction syndrome developed transient exotropia. In adults with Duane retraction syndrome, botulinum toxin can have a useful diagnostic role by providing insight to patients and setting realistic expectations. It can identify patients likely to benefit from further treatment and also has a positive impact on quality of life. [J Pediatr Ophthalmol Strabismus. 2023;60(1):46-51.].

Outcomes of symmetric bilateral medial rectus recession in large-angle esotropic Duane syndrome.

To evaluate the efficacy of symmetric bilateral medial rectus recession in large-angle esotropic Duane retraction syndrome (DRS) with moderate to severe globe retraction. In a retrospective study, medical reports of 30 patients with esotropia of equal or more than 20 prism diopters (pd) and moderate to serve globe retraction due to unilateral DRS who underwent symmetric bilateral medial rectus recession were reviewed. Age, gender, laterality, amblyopia, length of follow-up, pre- and postoperative measurements of primary position deviation, ocular ductions and severity of globe retraction and abnormal head posture were evaluated. A successful result was defined as decreasing esotropia to equal or less than 8 pd or equal or less than 8 pd of consecutive exotropia. The mean age of patients at surgery was 13.7 ± 8.5 years old (range: 3-38). The mean preoperative esotropia measured 28.9 ± 9.1 pd in distance and 25.7 ± 7.2 pd in near, which decreased to 4.9 ± 6.1 pd in distance and 3.9 ± 8.8 pd in near postoperatively. The mean bilateral medial rectus recession was 4.9 ± 0.9 mm (range: 3-6 mm). The mean abnormal head posture improved from 19.1 ± 6.9 degrees (range: 10-30 degrees) to 3.3 ± 4.7 degrees (range: 0-15 degrees) postoperatively. At the last follow-up visit, 23 patients (76.7%) had a successful outcome. In the large-angle esotropic DRS patients with moderate to severe globe retraction, symmetric bilateral medial rectus recession, can be conducted to successfully resolve primary position deviation and abnormal head posture.

Association of lateral rectus muscle volume and ocular motility with the abducens nerve in Duane's retraction syndrome.

To investigate the relationship between ocular motility and lateral rectus (LR) muscle volume according to the presence or absence of the abducens nerve in patients with Duane's retraction syndrome (DRS) using high-resolution magnetic resonance imaging (MRI). A total of 54 unilateral DRS patients were divided into two groups according to high-resolution MRI findings: DRS without an abducens nerve on the affected side (absent CN6 group, n = 45) and DRS with symmetric abducens nerves on both sides (present CN6 group, n = 9). Ocular motility was measured by image analysis based on nine gaze photographs. LR volume was measured on T2-weighted coronal MRI of the orbit, and the ratio of paretic/normal side (P/N) LR volume was investigated. Association of the abducens nerve with various parameters including ocular motility, LR volume, and ratios of P/N LR volume were determined. LR volume was smaller in the affected eye than the non-affected eye in both groups. In the present CN6 group, abducens nerve diameter and the ratio of P/N LR volume showed a positive correlation. A smaller LR volume and more limitation of abduction in the affected eye were predictive of an absent abducens nerve in DRS. LR muscle hypoplasia was apparent in the affected eye of DRS patients. Abducens nerve diameter positively correlated with the ratio of P/N LR volume in the present CN6 group. Graphical abstract.

Ocular structural changes in patients with Duane retraction syndrome: Does a correlation exist?

Purpose:The purpose of this study was to investigate the structural changes (axial length, central macular thickness (CMT), subfoveal choroidal thickness, and keratometry) in subjects with unilateral Duane retraction syndrome (DRS) as compared with the normal fellow eye.Methods:In this prospective study, we included 34 subjects with unilateral DRS from January 2016 to December 2016 seen at our institute. Data was collected for axial length, keratometry using partial coherence interferometry, CMT, subfoveal choroidal thickness using the enhanced depth imaging-optical coherence tomography (EDI-OCT). All these measurements were compared between the affected and fellow eye.Results:During this period, we included 34 subjects with unilateral DRS (22 Type I, 1 Type II, and 11 Type III). The mean age (±SD) of subjects was 14 ± 8 years (range: 5–28 years). There were 15 males and 19 females. Eyes with DRS were significantly shorter (median axial length 22.4 mm, interquartile range (IQR): 21.56 - 23.17) as compared to fellow eye (median axial length 22.7 mm, IQR: 22.35-23.55), P = 0.04. Choroidal thickness, CMT, and average keratometry were similar in DRS and fellow eyes (P = 0.39, 0.06, and 0.11, respectively). A significant difference in axial length was found only between Type I and Type III DRS (P = 0.03).Conclusion:This study suggests that in subjects with DRS, the affected eye has shorter median axial length when compared with the fellow eye. Prevalence of refractive error in eye with DRS was higher compared to fellow eye. But, there was no difference in magnitude of refractive error found between eye with DRS and normal fellow eye.

Unilateral medial rectus muscle recession combined lateral rectus muscle marginal myotomy for the treatment of Duane's retraction syndrome: A promising surgical procedure.

Background:Duane's retraction syndrome is a congenital eye movement anomaly with narrowing of the palpebral fissure and globe retraction on attempted adduction. There are several surgical approaches to treat the narrowing of the palpebral fissure. The purpose of the present study was to evaluate the efficacy of unilateral medial rectus recession (MRR) muscle combined lateral rectus (LR) muscle marginal myotomy (MM) with unilateral MRR alone in the management of narrowing of the palpebral fissure of patients with Type 1 Duane's retraction syndrome (DRS).Materials and Methods:Twenty-eight patients with unilateral DRS Type 1 were randomly divided into two groups (14 eyes of 14 patients in each group). Age ≥5 years with DRS Type 1 with <20 prism diopters in primary position who were candidates for surgery were consecutively enrolled in this randomized controlled trial. Patients were divided into treatment groups to receive unilateral MR recession with simultaneous MM group or with unilateral MR recession alone. The amount of deviation in primary position, abnormal head position, palpebral fissure width (PFW), and up/down shoot was evaluated before and 3 months after the surgery. This study was registered at the Iranian Registry of Clinical Trials under the registration code IRCT20131229015975N3.Results:PFW increased within MRR/MM group at the end of the study (8.86 ± 1.51) compared with the baseline (7.79 ± 1.48) (P < 0.001). In contrast, in the MRR/MM group, PFW did not increase statistically significantly within the MRR group at the end of the study (8.14 ± 1.35) compared with the baseline (8.07 ± 1.38) (P = 0.67). Mean ± standard deviation of PFW (mm) in MRR/MM group after surgery (8.86 ± 1.51) was statistically significantly higher than that in the MRR group (8.14 ± 1.35), (P = 0.002).Conclusion:The results of our study demonstrate PFW significantly increased after unilateral MRR muscle combined LR muscle MM.

Abducens Nerve in Patients with Type 3 Duane's Retraction Syndrome.

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.

Microdeletions involving Chromosomes 12 and 22 Associated with Syndromic Duane Retraction Syndrome

Background: Duane retraction syndrome (DRS) is the most common of the congenital cranial dysinnervation disorders (CCDDs). CCDDs can be monogenic or chromosomal in origin. Identification of the genetic cause(s) in patients and families with DRS facilitates definitive diagnosis and provides insights into these developmental errors.Materials and Methods: This study described a young girl with DRS on the left and several additional developmental abnormalities. Clinical examination including neuroimaging, sequencing of candidate genes associated with DRS, and array comparative genomic hybridization (array CGH) were performed.Results: The proband had unilateral DRS type 3 on the left with somewhat low-set ears, mild motor delay with normal intelligence, and an asymmetric neck without a palpable right sternocleidomastoid muscle. Spine X-rays revealed a Klippel-Feil syndrome (KFS) and an MRI showed a webbed neck. She also had spina bifida at C8-T1 and a submucosal cleft palate. The parents of the proband were related with no other family member affected similarly. Sequencing of SALL4, CHN1, HOXA1, and TUBB3 did not show any mutation. Array CGH revealed de novo deletions of 21 Kb on chromosome 12q24.31 and 11 Kb on chromosome 22q13.31, each encompassing only one gene, ring finger protein 34, E3 ubiquitin protein ligase (RNF34) and peroxisome proliferator-activated receptor alpha (PPARA) respectively.Conclusions: This patient presents an unusual phenotype associated with a unique combination of two chromosomal microdeletions.

Contralateral lateral rectus muscle recession in patients with Duane retraction syndrome type 3.

The aim of this study was to evaluate the motor, sensory, functional, and head posture results of recession of the lateral rectus muscle contralateral to the involved eye in patients with exotropic Duane retraction syndrome (DRS) type 3. This was a retrospective, longitudinal, observational study of a consecutive clinical case series. Of the 11 patients with DRS type 3 operated on at a tertiary medical center from 1977 to 2012, 8 underwent recession of the lateral rectus muscle contralateral to the involved eye (with combined Y-splitting of ipsilateral lateral rectus muscle in 3 of them). Full ophthalmic, orthoptic, and neurological examination was performed before and after surgery. Main outcome measures included intragroup changes in motor misalignment, abnormal head turn, ocular upshoot, and stereopsis. Mean patient age was 8.75±3.1 years at surgery. Mean exodeviation for distance was -17.3±3.5 prism diopters (PD) preoperatively and -4.0±6.1 PD postoperatively; corresponding values for near were -23.1±7.2 PD and -5.9±8.7 PD. Motor deviation improved by 77% for distance (P=0.017) and 74.5% for near (P=0.01). In 7/8 patients, the postoperative residual exodeviation (distance and near) was <8.0 PD. There was an 80% improvement in head turn, from 15.3±4° before surgery to 3.1±5.0° after (P=0.01). Stereopsis improved significantly in 6/8 patients. Findings remained stable during follow-up (mean duration 35.9±50.8 months, range 5-132 months). Contralateral lateral rectus muscle recession appears to be a promising technique for the treatment of moderate unilateral DRS type 3, with patients showing significant motor and functional improvement and a decrease in head turn.

Duane Retraction Syndrome With Posterior Microphthalmos: A Rare Association

Duane retraction syndrome is known to be associated with numerous ocular and systemic anomalies. The authors describe a 7-year-old child with unilateral Duane retraction syndrome type 1 with bilateral posterior microphthalmos. To the best of the authors' knowledge, this is the first reported coexistence of Duane retraction syndrome with posterior microphthalmos.

Results of asymmetric bilateral medial rectus retroposition in unilateral Duane retraction syndrome’s type I

To describe the results of asymmetric bilateral medial rectus retroposition in unilateral Duane retraction syndrome-this type I. This is a retrospective study involving 18 patients, mean age 11.2 years (3-37 years) with unilateral Duane retraction syndrome's type who were operated in 2009 up to 2011 year. The aim was to investigate the existence of ocular torticollis, size deviation before and after surgery and presence of amblyopia, anisometropia, type of refractive errors and lateralization. All 18 patients were surgically treated by asymmetric retroposition of internal rectus (for 1-2mm more on the healthy eye). All patients preoperatively demonstrated ocular torticollis. Size of mean preoperative deviation was +22.2 pD of primary angle PD and +46 pD of secondary angle. Postoperative finding: deviation of > +10 PD is noted to the presence of mild torticollis in one patient. Intermediate follow-up period was 9.8 months. Unilateral Duane's syndrome is common among members of women (67%) compared to males (33%). Lateralization of Duane's syndrome is more common in the left eye compared to the right (83% vs. 17%). Amblyopia was present in two patients and anisometropia (11.1%). As for refractive errors: hyperopia was found in 9 patients (50%), hypermetric astigmatism in 7 cases (39%), myopia and 1 (5.5%) and emmetropia (5.5%). None of the patients had no pathological changes in the fundus and anterior segment. Asymmetric bilateral medial rectus retroposition is extremely effective in the treatment of ocular torticollis and esotropia in patients with unilateral Duane retraction syndrome-this type I.

Comparison of Primary Position Measurements and Abduction Deficit Between Type 1 Duane Syndrome and Sixth Cranial Nerve Palsy

Unilateral Duane retraction syndrome type 1 (DRS-I) and unilateral sixth nerve palsy (6NP) present with limitation of abduction, incomitant esotropia, and frequently, a compensatory head turn. The purpose of this study was to compare the mean primary position measurement and to correlate this with the abduction deficit to determine if these measurements may be used to differentiate between the 2 conditions when other clinical signs of DRS-I (globe retraction, changes in lid fissure height, and upshoots/downshoots) are subtle. A database search of patients examined over a 5-year period revealed 69 cases of DRS-I and 62 cases of unilateral 6NP. Primary position measurements both at distance and near and limitation of abduction on version testing were recorded and compared. Mean abduction deficit was -3.5 ± 0.1 for DRS-I and -2.6 ± 0.2 for 6NP (P = 0.0004). Mean esotropia at near was 8.4 ± 1.1 prism diopters (PD) for DRS-I and 27.2 ± 2.4 PD for 6NP (P < 0.0001). Mean esotropia at distance was 10.3 ± 1.3 PD for DRS-I and 36.4 ± 2.4 PD for 6NP (P < 0.0001). The mean distance-near disparity for DRS-I was 1.94 ± 0.62 PD and 9.19 ± 1.28 PD for 6NP (P < 0.0001). The age-group of ≤2 years consisted of 23 DRS-I and only 2 6NP cases. The age-group between >2 years and <18 years had 41 DRS-I and 16 6NP cases, respectively. Finally, the age-group of ≥18 years had only 5 DRS-I and 44 6NP cases (P < 0.0001). Patients with DRS-I showed greater abduction deficit yet significantly less esotropia in primary position than those with 6NP. Patients with 6NP were more likely to have a significant distance-near disparity. In addition, patients with DRS-I tended to be younger than those with 6NP. This report documents that DRS-I and 6NP can be differentiated based on magnitude of primary position esotropia, comparison of primary position esotropia with severity of abduction deficit, distance-near disparity, and patient age.

CHN1 mutations are not a common cause of sporadic Duane's retraction syndrome

<i>CHN1</i> mutations are not a common cause of sporadic Duane's retraction syndrome

Binocular coordination of saccades in Duane Retraction Syndrome

Disconjugate oculomotor adaptation is driven by the need to maintain binocular vision. Since binocular vision in Duane Retraction Syndrome (DRS) patients is normal in half of their horizontal field of gaze (i.e., sound-side of gaze), we wondered whether oculomotor adaptive capabilities are efficient despite such a severe impairment of eye motility towards the other half of the horizontal field of gaze (i.e., affected-side gaze). We compared properties of horizontal saccades of patients with congenital unilateral Duane Retraction Syndrome type I in binocular viewing and monocular viewing conditions by simultaneously recording both eyes with the search coil technique. Our results show a mismatch between the pulse and the step signal of the innervation for saccades. When tested in the affected eye viewing condition (sound eye covered), the eyes showed not only similarly-directed increases of the saccadic gain (pulse signal) in the two eyes but also disjunctive post-saccadic drifts (step signal). This behavior suggests that visuomotor errors presented only to the affected eye were transferred to the sound eye, producing conjugate changes of the saccadic command. The post-saccadic command remained unchanged, however, and controlled the final position of each eye separately. This suggests that monocular adaptation is possible only for the step of innervation (i.e., controlling the final eye position) but not for the pulse of innervation (i.e., controlling the saccadic gain), even though the peculiarity of unilateral DRS type I offers a clear advantage for separate pathways of control for the two eyes.

Left-sided Duane's Syndrome and Retinal Coloboma associated with Contralateral Microphthalmia

Case report of a 15-year-old girl presenting with a left-sided Duane's retraction syndrome (DURS) in combination with ipsilateral retinal coloboma and contralateral microphthalmia. Abduction limitation as well as narrowing of the palpebral fissure and globe retraction during attempted adduction (type I DURS) was demonstrated in the left eye. Additionally, a retinal coloboma was observed in the nasal inferior quadrant of the left eye. No other somatic or developmental abnormalities were observed and karyotypic analysis was normal. This is the first case of non-syndromic unilateral DURS associated with a contralateral major ocular malformation. This unusual clinical combination probably arose from the embryonic action of an eye-specific disruptor.

Properties of Saccades in Duane Retraction Syndrome

To improve understanding of the binocular control of saccades by making high-resolution eye movement recordings in patients with unilateral Duane retraction syndrome (DRS) type I (marked by congenital absence of the sixth cranial nerve). Binocular eye movements were recorded in four patients in binocular viewing conditions during a saccade task. Affected-side gaze showed normal saccades of the sound eye and undershooting saccades of the affected eye-evidence of intact interneurons, but deficient motoneurons, in the sixth-nerve nucleus on the affected side. Postsaccadic smooth onward drift followed undershooting saccades of the affected eye. Sound-side gaze, in the centripetal direction, showed relatively accurate saccades despite large offsets in initial position between the two eyes. In the centrifugal direction, there was a consistent undershoot of the affected eye. The sound eye showed unexpected overshoot. Postsaccadic drifts in opposite directions in the two eyes brought both eyes onto the target in an optimal time course. Studying the characteristics of the saccadic system in this oculomotor disorder gives new insight into binocular control of saccades and adaptation. In these patients, the oculomotor system was not capable of adapting the pulse command to the two eyes separately, even though DRS offers clear advantages of independent control. In contrast, independent adaptation of the saccadic step command was sent to the two eyes. This supports the idea that the rapid part of the saccadic command is common to both eyes.

The Clinical Features of Korean Patients with Duane's Retraction Syndrome

To describe the clinical features of Duane's retraction syndrome (DRS) in Korean patients. 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. 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. 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.