Bilateral Duane Retraction Syndrome Research Articles

Non-classical 1p36 deletion in a patient with Duane retraction syndrome: case report and literature review

BackgroundMonosomy of 1p36 is considered the most common terminal microdeletion syndrome. It is characterized by intellectual disability, growth retardation, seizures, congenital anomalies, and distinctive facial features that are absent when the deletion is proximal, beyond the 1p36.32 region. In patients with proximal deletions, little is known about the associated phenotype, since only a few cases have been reported in the literature. Ocular manifestations in patients with classical 1p36 monosomy are frequent and include strabismus, myopia, hypermetropia, and nystagmus. However, as of today only one patient with 1p36 deletion and Duane retraction syndrome (DRS) has been reported.Case presentationWe describe a patient with intellectual disability, facial dysmorphism, and bilateral Duane retraction syndrome (DRS) type 1. Array CGH showed a 7.2 Mb de novo deletion from 1p36.31 to 1p36.21.DiscussionOur patient displayed DRS, which is not part of the classical phenotype and is not a common clinical feature in 1p36 deletion syndrome; we hypothesized that this could be associated with the overlapping deletion between the distal and proximal 1p36 regions. DRS is one of the Congenital Cranial Dysinnervation Disorders, and a genetic basis for the syndrome has been extensively reported. The HES3 gene is located at 1p36.31 and could be associated with oculomotor alterations, including DRS, since this gene is involved in the development of the 3rd cranial nerve and the 6th cranial nerve’s nucleus. We propose that oculomotor anomalies, including DRS, could be related to proximal 1p36 deletion, warranting a detailed ophthalmologic evaluation of these patients.

CHN1 gene mutation analysis in patients with Duane retraction syndrome

To investigate CHN1 (chimerin 1) gene mutations in patients with isolated nonsyndromic Duane syndrome and accompanying positive familial history, bilaterality, or various systemic disorders. Patients with Duane retraction syndrome (DRS) and a positive family history of congenital ocular motility disturbance or bilateral involvement or accompanying any congenital disorder(s) seen consecutively at a single center from 2013 to 2016 were enrolled. All subjects underwent full ophthalmologic examination, including refraction, best-corrected visual acuity, ocular alignment and motility, globe retraction, and biomicroscopic or fundus evaluation. DNA samples were investigated by direct sequencing of the coding regions of the CHN1 gene. A total of 30 patients (15 males) were included (mean age, 11.8±10.4years; range, 2-45years): 8 cases presented with bilateral DRS; 22, with unilateral DRS. Family history of ocular motility abnormality was positive in 16 patients. Eleven cases had an additional congenital disorder. In 2 patients, 2 different mutations were detected in the CHN1 gene: p.E313K (c.937G>A) and p.N224S (c.671A>G). CHN1 mutations were identified in 2 bilateral cases and in 1 parent of 1 affected case. One mutation is novel and occurred with additional vertical gaze abnormalities. Additional genetic studies evaluating chimerin 1 (CHN1) and its role in the development of the ocular motor axis are needed to provide new data about these mutations and phenotypic variations.

Duane retraction syndrome: causes, effects and management strategies.

Duane retraction syndrome (DRS) is a congenital eye movement anomaly characterized by variable horizontal duction deficits, with narrowing of the palpebral fissure and globe retraction on attempted adduction, occasionally accompanied by upshoot or down-shoot. The etiopathogenesis of this condition can be explained by a spectrum of mechanical, innervational, neurologic and genetic abnormalities occurring independently or which influence each other giving rise to patterns of clinical presentations along with a complex set of ocular and systemic anomalies. Huber type I DRS is the most common form of DRS with an earlier presentation, while Huber type II is the least common presentation. Usually, patients with unilateral type I Duane syndrome have esotropia more frequently than exotropia, those with type II have exotropia and those with type III have esotropia and exotropia occurring equally common. Cases of bilateral DRS may have variable presentation depending upon the type of presentation in each eye. As regards its management, DRS classification based on primary position deviation as esotropic, exotropic or orthotropic is more relevant than Huber’s classification before planning surgery. Surgical approach to these patients is challenging and must be individualized based on the amount of ocular deviation, abnormal head position, associated globe retraction and overshoots.

The genetics of nonsyndromic bilateral Duane retraction syndrome

To assess the importance of monogenic mutations and chromosomal copy number variants (CNVs) in the occurrence of nonsyndromic bilateral Duane retraction syndrome (bilateral nsDRS). The medical records of 12 patients with bilateral nsDRS were reviewed. Genes associated with DRS and associated congenital cranial dysinnervation disorders (SALL4, CHN1, HOXA1, TUBB3, and KIF21A) were sequenced in the standard fashion in each patient. Array comparative genomic hybridization (array CGH) was performed using Affymetrix Cytogenetics Whole-Genome 2.7M array, and the results were analyzed using Affymetrix Chromosome Analysis Suite v1.2. CNVs were assessed as unlikely to be pathologic if they were also present in the Database of Genomic Variants (DGV) or our local database of array CGH results in 150 normal individuals of Middle Eastern ethnicity. No patient had a sequence mutation in SALL4, CHN1, HOXA1, TUBB3, or KIF21A. These 12 patients each had 36-42 chromosomal deletions and/or duplications (mean with standard deviation, 26.25±6.77), but all of these CNVs were present either in the DGV or in our local database of normal individuals of similar ethnicity and, therefore, are considered nonpathogenic. The results reported here suggest that bilateral nsDRS is not usually associated with mutations in these genes or with chromosomal CNVs. Current evidence suggests other factors such as epigenetic and/or teratogenic abnormalities may be a potential cause of bilateral nsDRS.

Surgical and functional outcomes in bilateral exotropic Duane's retraction syndrome

AimsTo evaluate the outcomes following surgery on patients with bilateral Duane's Retraction Syndrome (DRS) associated with exotropia or exophoria.MethodsEleven consecutive patients with exotropic DRS were identified in a 10-year period....

Retrospective study on clinical characteristics and surgical treatment of bilateral DRS

To investigate the clinical characteristics and surgical treatment of bilateral Duane retraction syndrome. To collect 24 cases with bilateral DRS among 123 cases with DRS from hospital data during 2005.7 to 2009.11. Retrospective study included the clinical types, characteristics, plus diseases and surgical treatments. Fourteen male cases (58.3%) and 10 female cases (41.7%), aging 2 to 23-year-old. 16 cases were type I (66.7%), 1 case was type II (4.2%). 7 cases were type III (29.1%), in which patients with esotropia or exotropia were 3 and 4 cases respectively. 11 cases had up- or down-shoot pre-operation, which disappeared or improved post-operation in 8 cases (73%). 15 cases had abnormal head posture (AHP) and AHP disappeared or improved in all. Seven cases (29%) were associated with other congenital ocular or systemic anomalies. For horizontal deviation, unilateral medial or lateral rectus weakening procedures were performed in 13 cases and bilateral procedures in 11 cases. Post-operation, horizontal deviation was less than ± 10(Δ) in 21 patients (91%), 1 case was under-corrected and 2 cases were overcorrected. Simultaneously, the restriction of ocular motility and global retraction were improved in all the patients. Additional vertical or oblique muscle procedures were performed in 4 patients among 7 with vertical deviation more than 10(Δ) and up- or down-shoot. Bilateral DRS has more frequency in male, obviously horizontal deviation in primary position and more cases with vertical deviation which is related with up- or down-shoot phenomenon. The key point for successful surgery are forced duction test pre- and during operation to conform to relieve the mechanical factor and estimating abnormal innervation in horizontal and vertical rectus.

Duane Retraction Syndrome: Series of 441 Cases

To determine the demographic and clinical profile of various subtypes of Duane retraction syndrome (DRS). Retrospective case series of 441 patients. Of the total 441 patients, 389 (88.2%) and 52 (11.8%) patients had unilateral and bilateral involvement, respectively. In both unilateral and bilateral cases, type I was the most common subtype, followed by types III and II. Mean age of presentation of type I DRS was significantly less (13.3 years) compared with types II (23 years) and III (21.9 years) (P < .05). Unilateral disease was significantly more common in females (57. 6%, P = .006), whereas there was no gender predilection in bilateral cases (P = .77). Type 1 DRS was significantly more common among females (57.96%, P = .003) compared with males, whereas there was no such gender predilection in types II and III. The left eye was more commonly involved in patients with types I and III (P < .05), whereas in type II there was no such predilection for any eye involvement. Esotropia was more common in patients with bilateral disease (53.8%) and exotropia was predominant ocular deviation in patients with types II and III (70% and 66.67%, P = .03). There was no difference in the type of deviation in patients with type I (P > .05). Upshoots and downshoots were more common in unilateral disease and types I and III compared with type II. Unilateral and bilateral DRS show considerable differences in gender distribution, associated ocular deviation, overshoots, and ocular and systemic associations.

Outcomes of surgery for bilateral esotropic Duane retraction syndrome

Introduction: Indications for surgery in patients with bilateral esotropic Duane's retraction syndrome (DRS) are strabismus, globe retraction, abnormal head posture and/or overshoots. Limited previous studies of bilateral esotropic DRS showed mixed outcomes with bilateral medial rectus recession with high incidence of consecutive exodeviation and adduction lag. In this series, we describe outcomes of bilateral medial rectus recessions for bilateral Esotropic DRS.

Distinctive clinical features of bilateral Duane retraction syndrome

To compare the clinical characteristics of unilateral and bilateral forms of Duane retraction syndrome. A retrospective chart review of patients with Duane syndrome over a 10-year span was performed. All participants underwent a complete medical and ophthalmologic examination at the time of diagnosis. Data collected included the following: sex, age at first visit, form (unilateral/bilateral), side, type, ocular duction and version, abnormal head position, best-corrected visual acuity, refractive errors, presence of strabismus, binocular function, and associated congenital anomalies. Of 94 patients identified, 17% were bilaterally affected. Of the bilateral patients, 12% had familial antecedents; 87.5% had the same type in both eyes with 75% bilateral type 1. Patients with bilateral Duane syndrome had significantly different visual acuity (mean, 0.1214 logMar vs 0.0035; p = 0.045), abnormal head position (56.25% vs 89%; p = 0.04), A or V patterns (69% vs 27.6%; p = 0.003), and associated congenital anomalies (50% vs 14%; p = 0.003) than patients with unilateral disease. There was also a suggestion of higher rates of ametropia, global vertical dysfunction, and abnormal stereoacuity in bilateral Duane syndrome that were not statistically significant. Patients with bilateral Duane syndrome had lower visual acuity, a lower incidence of abnormal head posture, and a higher incidence of A or V patterns and associated congenital anomalies. Bilateral Duane retraction syndrome seems to involve multiple instances of deinnervation and fibrosis, resulting in horizontal and vertical oculomotor deficits and functional impairments.

Heterozygous 5p13.3-13.2 deletion in a patient with type I Chiari malformation and bilateral Duane retraction syndrome

Heterozygous 5p13.3-13.2 deletion in a patient with type I Chiari malformation and bilateral Duane retraction syndrome

Bilateral Duane Retraction Syndrome With Optic Nerve Hypoplasia

The authors report a unique case of a child with the infrequent association of bilateral Duane retraction syndrome with underdevelopment of the anterior visual pathway. Both conditions were caused presumably due to a common disturbance of neuronal development during the second month of embryogenesis.

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

Duane Retraction Syndrome on the Arabian Peninsula

Purpose To describe the clinical features of patients from the Arabian Peninsula with Duane retraction syndrome (DRS). Methods Retrospective chart review of patients referred to the King Khaled Eye Specialist Hospital in Riyadh, Saudi Arabia from 1982 to 2003 with a diagnosis of DRS. Patients having had prior strabismus surgery were excluded. Results Of 404 DRS patients, 347 (86%) were unilateral, 57 (14%) were bilateral, and 111 (27%) had amblyopia. There were 221 (55%) females and 182 (45%) males. The Huber classification was as follows: 315 (78%) Type I, 16 (4%) Type II, and 77 (19%) Type III. Of the 57 bilateral cases, 25 (44%) were female and 32 (56%) were male. Discussion Overall, the clinical features of DRS patients referred to a Riyadh eye hospital are similar to those reported in series throughout the world. However, our referred bilateral DRS patients are more commonly male. The clinical features of bilateral DRS deserve further worldwide study.

Concordant bilateral Duane’s Retraction Syndrome (type 1) in female monozygotic twins

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.

Bilateral Duane retraction syndrome associated with an extraordinary hand anomaly

Duane retraction syndrome is an ocular motility disorder with which an increasing number of congenital abnormalities appear to be associated. In the present paper the authors report a case of bilateral Duane retraction syndrome with an extraordinary hand abnormality. Numerous theories concerning the etiology and pathogenesis of Duane retraction syndrome and its relationship to the associated findings have been proposed, but the exact mechanism is still under investigation. Further multi-centered studies and the classification of the associated clinical findings in an organized manner may help to explain this mechanism.

Bilateral Duane's syndrome associated with hypogonadotropic hypogonadism and anosmia (Kallmann's syndrome)

A case of bilateral Duane's retraction syndrome (DRS) type III associated with Kallmann's syndrome (hypogonadotropic hypogonadism and anosmia) is reported. Both anomalies may result from a disturbance of embryogenesis during the second month of gestation. The authors associate bilateral type III DRS with congenital horizontal gaze paralysis.

A Family with Bilateral Duane's Retraction Syndrome, Dominant Inheritance, and Prominent Systemic Features

Six members of one family were affected by Duane's retraction syndrome. Its dominant mode of inheritance and prominent systemic features are described, along with the etiology of the disorder.

Bilateral Duane's Retraction Syndrome Associated with Congenital Panhypopituitarism

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.

Monozygotic Twins Concordant for Bilateral Duane's Retraction Syndrome

Duane's retraction syndrome applies to a wide spectrum of motility disturbances associated with retraction of the globe and narrowing of the palpebral fissure. Although many different anatomic and physiologic disturbances of the oculomotor system are implicated, the underlying cause remains obscure. Twin studies are often useful in determining the contribution of genetics or heredity to disease, but the occurrence of Duane's retraction syndrome in twins is rare. One of a pair of monozygotic twins concordant for bilateral Duane's retraction syndrome developed a 12-diopter esotropia in primary gaze but the other has not. Neither child has a head tilt and both can fix and follow with either eye.

Bilateral Duane's Syndrome Associated with Crocodile Tears

The rare association of two syndromes of paradoxical innervation, bilateral Duane's retraction syndrome and congenital crocodile tears is presented. This association assumes a central localization to explain both anomalies.