Duane Retraction Syndrome Type Research Articles

An Alternative in Managing Duane Retraction Syndrome Type I Using Modified Nishida Procedure: A Case Report

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.
 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.
 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.
 Conclusion : Modified Nishida procedure can be implemented as an alternative in managing DRS type I with relatively satisfactory result.

Magnetic Resonance Imaging Findings in Patients With Duane Retraction Syndrome.

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.

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.

Effect of lateral rectus muscle resection on abduction in Duane retraction syndrome type 1.

To assess the effect of lateral rectus muscle resection on abduction in Duane retraction syndrome (DRS) type 1. The medical records of patients with DRS type 1 were reviewed retrospectively. Fifteen patients who underwent lateral rectus resection were included. Prism and cover test and the Krimsky test were used to detect deviations. Ocular ductions, abnormal head position (AHP), and globe retraction were recorded. Nine (60.0%) patients were female. The mean age was 13.1 ± 2.3 (range, 2-34) years. Left eyes were included in ten (66.7%) patients. Mean follow-up time was 37.6 ± 16.6 (range, 6-70) months. All patients had AHP, 13 patients had mild globe retraction, and 2 patients had no globe retraction preoperatively. Mean lateral rectus resection was 3.1 ± 0.7 (range, 2.0-4.5) mm, and the mean medial rectus recession was 4.4 ± 0.6 (range, 3.0-5.0) mm. The mean preoperative deviation decreased from 23.3 ± 6.9 (range, 14-35) prism diopters (pd) to 2.2 ± 4.1 (range, 0-10) pd at near, and from 23.6 ± 7.1 (range, 14-35) pd to 1.8 ± 3.5 (range, 0-10) pd at distance, at 6months postoperatively (p = 0.01). The mean limitation in abduction decreased from -3.2 ± 0.9 to -1.3 ± 1.1 postoperatively (p < 0.001). AHP resolved in all patients. There was not a limitation in adduction or a worsening of globe retraction in any patient. Lateral rectus resection can be used to improve abduction in patients with DRS type 1 who have mild globe retraction. We assume that this procedure has no worsening effect on globe retraction in appropriate cases.

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.

Clinical Features of Duane Retraction Syndrome: A New Classification.

We sought to provide a new classification system for Duane retraction syndrome (DRS) according to type and angle of strabismus during primary gaze and to analyze the clinical features of each DRS type. The medical records of 65 DRS patients who visited the department of pediatric ophthalmology at Seoul National University Children's Hospital between 2010 and 2017 were retrospectively analyzed. Patients whose angle of exotropia at primary gaze exceeded 3 prism diopters (PDs) were classified as "Exo-Duane," those whose angle of strabismus at primary gaze did not exceed 3 PDs were classified as "Ortho-Duane," and those whose angle of esotropia at primary gaze exceeded 3 PDs were classified as "Eso-Duane." Among 65 DRS patients, Ortho-Duane was the most common (53.8%) type, followed by Eso-Duane (33.8%) and Exo-Duane (12.3%). The mean age at diagnosis was significantly higher in the Exo-Duane group than the Ortho-Duane or Eso-Duane group (p = 0.003 and p < 0.001, respectively). A predominance of left eye involvement was observed in the Ortho-Duane (62.9%) and Eso-Duane (90.9%) groups. The frequencies of upshoot, downshoot, fissure narrowing, and globe retraction were not significantly different among the subgroups. Head-turn was more frequent in Eso-Duane patients than in Exo-Duane or Ortho-Duane patients (p = 0.001 and p < 0.001, respectively). Myopia accounted for the most common refractive error among Exo-Duane patients (71.4%), while hyperopia was found more often in both Ortho-Duane (64.7%) and Eso-Duane (85.0%) patients. The majority of patients showed gross stereoacuity (93.1%), and a large proportion had good stereoacuity (Exo-Duane 60.0%, Ortho-Duane 81.3%, Eso-Duane 87.5%). Our newly proposed classification of DRS according to type and angle of strabismus at primary gaze was practically useful and showed potential for use as an objective guideline in the clinical setting.

The clinical characteristics of Duane retraction syndrome in Al-Medina region

PurposeTo assess the clinical characteristics of Duane Retraction Syndrome (DRS) in Al-Medina region, in patients attending a pediatric ophthalmology clinic at Ohud Hospital. MethodA cross-sectional observational study was conducted from October 2017 to June 2018 at Ohud Hospital, Al-Medina region, Saudi Arabia. Data was collected using a sheet containing eighteen simple items which include demographic data, family history, surgical history, the clinical characteristics of the disease and the physician's treatment plan. Twenty patients were included in this study. ResultsAll twenty patients included in the study were diagnosed with DRS type I. Male and female were symmetrical in numbers as both 10 (50.0%) respectively. The mean age of the subjects was 8.7 years (SD 9.6). 95% of the subject were unilaterally affected while five percent of them were affected both sides of the eyes. 75% of the patients were affected on the left eye while 20% were affected on the right side. 35% of the patients had amblyopia in the affected eye. 25% of the patients had an abnormal head position. Abnormal eye movement (upshoot and downshoot) more common when the right eye is affected (p-0.035). 75% of the patients were orthotropic while 30% had esotropia. 75% of patients were positive of parents' consanguinity. 16 patients (80.0%) were from Al-Medina city while four of them (20.0%) were from the different area of Al-Medina region (Al Hejeria, Al Henakia, Omluj, Yatmah). ConclusionThis cross-sectional observational study is the first one that evaluates DRS in Al-Medina region. Associated abnormal eye movement more common when the right eye is affected. Parents' consanguinity may play a role in the occurrence of DRS as it is not considered as a rare disease in our region. Therefore, more studies are needed to establish the relationship between the occurrence of DRS and parents' consanguinity in our region. Also, further studies are needed to establish the relationship between abnormal eye movement and the involvement of the right eye.

Diffusion Tensor Imaging of the Lateral Rectus Muscle in Duane Retraction Syndrome.

This study aimed to assess metrics of diffusion tensor imaging in evaluating microstructural abnormalities of the lateral rectus muscle in Duane retraction syndrome (DRS). A prospective study was conducted on 27 patients with DRS and 16 age- and sex-matched controls who underwent diffusion tensor imaging of orbit and forced duction test (FDT). Fractional anisotropy (FA) and mean diffusivity (MD) of the lateral rectus were calculated by 2 observers. Fractional anisotropy of the lateral rectus in patients (0.62 ± 0.07 and 0.59 ± 0.06) was significantly higher (P = 0.001) than that in controls (0.49 ± 0.06 and 0.51 ± 0.06). Selection values of 0.53 and 0.52 as cutoff points of FA of the lateral rectus to differentiate patients from controls revealed areas under the curve of 0.92 and 0.86 and accuracy values of 84.8% and 80.4% by both observers, respectively. Mean diffusivity of the lateral rectus by both observers in patients (1.19 ± 0.13 and 1.23 ± 0.19 × 10 mm/s) was significantly lower (P = 0.001) than that in controls (1.54 ± 0.18 and 1.49 ± 0.16 × 10 mm/s). Selection values of 1.35 and 1.40 × 10 mm/s as cutoff points of MD of the lateral rectus to differentiate patients from the control groups revealed areas under the curve of 0.93 and 0.85 and accuracy values of 91.3% and 80.4% by both observers, respectively. Interobserver agreement for MD and FA of the lateral rectus by both observers were excellent (r = 0.870 and, 0.959). Diffusion tensor imaging metrics of the lateral rectus muscle did not differ significantly between patients with unilateral and bilateral disease (P = 0.05) and patients with DRS type I and type III (P = 0.05). Diffusion tensor imaging metrics of the lateral rectus muscle differed significantly between FDT grades I and II versus grades III and IV, and these metrics were well correlated with the degree of FDT. Diffusion tensor imaging metrics are valuable noninvasive tools in evaluating the microstructural abnormalities of the lateral rectus in DRS and are well correlated with degree of FDT.

Case Series: Botulinum Toxin in the Management of Duane Retraction Syndrome type I

Introduction: Duane retraction syndrome (DRS) is a form of congenital strabismus related to impairment of extraocular muscle innervation. The condition was first described by Mr. Duane as absence or limitation of abduction with narrowing of palpebral fissure in adduction and globe retraction. DRS is thought to be caused primarily by agenesis of the sixth nerve nucleus, leading to fibrosis of the lateral rectus muscle. Horizontal rectus muscle recession is still considered the preferable surgical intervention. Indications include large deviation in primary position, abnormal head position or significant upshoot or downshoot. The rule of botox in DRS is still not fully understood. In this short series we aim to explore the efficacy of botulinum toxin as an alternative to surgical intervention in patients with DRS type 1. Cases: The series include four patients of DRS type 1. Three patients underwent botox injection as a primary mode of treatment and one patient had a history of strabismus surgery two years prior to botox injection. Two patients maintained orthophoria over a follow-up period of 24 months; one patient didn't benefit from botox injection with similar angle of deviation pre and post injection. The fourth patient with history of strabismus surgery responded with reduction of the angle of deviation in the first and second visits, with return to the pre-injection angle on the sixmonth follow-up visit. Conclusion: Botulinum toxin can serve as an alternative to surgery in DRS type I especially in young age groups where surgical intervention is not preferable. Further large-scale studies are needed to evaluate its use in other types of the syndrome and to explore its long-term effect.

Postoperative full abduction in a patient of Duane retraction syndrome without an abducens nerve: a case report

BackgroundDuane retraction syndrome (DRS) consists of abduction deficit, globe retraction and upshoots or downshoots with adduction. The abducens nerve on the affected side is absent in type 1 DRS. After bilateral medial rectus muscle recession in unilateral type 1 DRS may improve the abduction limitation, but still more than −3 limitation remains.Case presentationA 6-month-old boy presented with esotropia which had been noticed in early infancy. He showed limited abduction, fissure narrowing on attempted adduction and a small upshoot OS. Left abducens nerve was not identified on magnetic resonance imaging compatible with Duane retraction syndrome type 1. He showed full abduction after bilateral medial rectus recession of 6.0 mm at the age of 9 months, and remained orthotropia with full abduction OU 2 years postoperatively. He is my only patient with Duane retraction syndrome who showed full abduction after bilateral medial rectus recession.ConclusionsA patient with the type 1 Duane retraction syndrome rarely may show full abduction after bilateral medial rectus recession mimicking infantile esotropia.

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.

Magnetic resonance imaging (MRI) in Duane retraction syndrome

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.

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.

8q12 microduplication including CHD7: clinical report on a new patient with Duane retraction syndrome type 3

BackgroundA novel multiple congenital anomalies syndrome has been recently identified in four patients carrying a 8q12 microduplication sharing the smallest region of overlap (SRO, size 1.6 Mb) including five genes CA8, ASPH, RAB2B, CLVS1 and CDH7. The phenotype is mainly characterized by neurodevelopmental delay, heart defects, facial features and Type 1 Duane anomaly. Increasing dosage of CDH7 was proposed to be responsible for the recurrent pattern of MCA.ResultsHigh resolution array-CGH analysis identified a 4.2 Mb de novo interstitial duplication of the 8q12.1-q12.3 chromosome region in a boy with developmental delay, dysmorphic features, type 3 Duane anomaly. This duplication includes several genes and spans the SRO.DiscussionThe present case represents a further patient with an interstitial duplication of chromosome 8q12 and several shared clinical features. Although more cases are needed to delineate the full-blown phenotype of 8q12 duplication syndrome, published data and present observations suggest that it results in a clinically recognizable phenotype. The presence of Duane anomaly in four out of five described patients with a 8q12 duplication definitely rules against the possibility of its being a chance finding unrelated to the imbalance and points toward a pathogenic role. Gene content analysis of the duplicated region and review of the literature suggest that gain-of-dosage of the CHD7 gene may be a good candidate for the main clinical features of the syndrome.

Botulinum Toxin Treatment in Patients Up to 3 Years of Age Who Have Esotropic Duane Retraction Syndrome

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.

A rare case of duane retraction syndrome type 1 with exotropia and nystagmus

Duane retraction syndrome is a congenital miswiring of the medial and lateral rectus muscle. We reported a case of 12-year-old female child having left eye abduction limitation with normal adduction, widening of interpalpebral fissure of left eye on attempting abduction. She has 5 ∆ exotropia for distance and orthophoria for near in primary gaze. She has pendular nystagmus also.

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.

Duane's retraction syndrome: a retrospective review from Kathmandu, Nepal

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.