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At least 19 recordsLinked to original sources
PubMed2006

Interstitial deletion of 1q42.13-q43 with Duane retraction syndrome.

Duane retraction syndrome is a congenital eye movement disorder characterized by failure of the sixth cranial nerve or nucleus to develop properly, resulting in restriction of abduction, narrowing of the palpebral fissure, and retraction of the globe on attempted adduction and/or restricted adduction. The gene loci of Duane syndrome have been mapped on 8q and 2q, indicating a heterogeneity. We report here a patient with interstitial deletion of 1q with Duane syndrome. The karyotype of our patient suggests another possible locus of the Duane syndrome, and the mapped genes around the deleted region, 1q42.13-43, contain possible candidate genes such as a homeobox gene. However, further clinical descriptions of patients with Duane syndrome and genetic investigations of the deleted regions are needed for a more accurate delineation.

Child↗
PubMed2001

Duane retraction syndrome.

Duane retraction syndrome (DRS) consists of deficient horizontal eye movements, eyelid retraction, palpebral fissure narrowing, and abnormal vertical eye movements. Most cases are sporadic and unilateral (usually left side) with a slight female predominance. Several associated ocular and systemic conditions have been described in DRS patients. In most cases, the abducens nucleus and nerve are absent or hypoplastic, and the lateral rectus muscle is innervated by a branch of the oculomotor nerve. However, there may be contributing mechanical abnormalities. Type I DRS (primary gaze position esotropia with limitation of abduction) comprises the majority of cases. Approximately 50% of type I DRS patients are orthophoric in primary gaze. Esotropia is the most common type of strabismus encountered, and characteristic up shoots and down shoots occur in adduction. Surgical intervention has gradually become more popular in order to improve the primary gaze alignment and mitigate some of the associated abnormalities in ocular motility. However, patients are rarely rendered clinically normal, and limited expectations are appropriate.

Adolescent↗
PubMedDate not supplied

Surgery on the normal eye in Duane retraction syndrome.

Duane retraction syndrome is a well-described congenital eye movement disorder whose management is still controversial. Various surgical strategies have been advocated, usually limited to the involved (restricted) eye to eliminate a face turn or a manifest deviation in the primary position. However, surgery on the normal eye has the potential to expand the field of single binocular vision as well as restore primary position alignment. In patients with mild-to-moderate duction deficiencies in the restricted eye, we have used very large recessions or posterior fixation sutures on the normal eye to create matching duction limitations, which in some cases produce a wider range of fusion postoperatively.

Adult↗
PubMedDate not supplied

Management of Duane retraction syndrome.

BACKGROUND: Duane retraction syndrome is the most common cause of congenital aberrant ocular innervation. We report referral practices, clinical characteristics and complications, prevalence of congenital and familial anomalies, and management outcomes from a clinic-based series. METHODS: Retrospective clinic-based study of 65 patients with Duane retraction syndrome seen between January 1994 and March 2004. RESULTS: The majority of patients were girls with type I Duane retraction syndrome associated with esotropia in primary gaze. Twenty percent of cases were complicated by absent binocular stereoacuity and 16.9% had amblyopia. Family history of any ocular disorder was reported in 38.5% of cases, while an associated congenital abnormality was found in 46% of patients. There was a significant delay between the age when ocular abnormalities were first noticed and the age when patients presented at our tertiary referral center (P < .001). Twenty-two percent of patients underwent surgical correction at a mean age of 6 years. Most procedures were unilateral or bilateral medial or lateral rectus recessions. Postoperative ocular alignment < or = 15 prism diopters (PD) was achieved in 86% of cases, with 50% of cases having < or = 5 PD. CONCLUSIONS: Amblyopia and absent binocular stereo vision affected one in five patients with Duane retraction syndrome. There was significant delay between identification of an abnormality and presentation at the eye clinic.

Amblyopia↗
PubMed1985

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.

Diseases in Twins↗
PubMedDate not supplied

Duane's retraction syndrome.

Duane's retraction syndrome (DRS) has been a recognized clinical entity for nearly a century. It is a clinically well described ocular disorder consisting of retraction of the globe with narrowing of the lid fissure in attempted adduction, frequent abduction deficiency with variable limitation to adduction, and upshoot and/or downshoot of the affected eye on adduction. Among strabismus patients the incidence of DRS is probably not more than 5%. Most cases are sporadic, but familial cases have been estimated at 10% by most authors. Numerous theories concerning the etiology and pathogenesis of DRS have been proposed, including agenesis of the abducens nucleus, but the majority of investigators concur that the characteristic findings are best explained by a paradoxical innervation of the lateral rectus muscle, which subsequently causes a cocontraction of the horizontal rectus muscles. The frequent association of DRS with other congenital anomalies suggests a teratogenic event occurring between the fourth to eighth week of gestation as an etiological factor. In this review historical aspects and theories of the syndrome are studied and statistical data are compiled and analyzed. Clinical features, differential diagnoses and variants of the syndrome are examined. Testing and treatment objectives are discussed.

Duane Retraction Syndrome↗
PubMed1986

Severe adduction deficiency following a large medial rectus recession in Duane's retraction syndrome.

Duane's retraction syndrome is a congenital eye movement disorder characterized by a deficiency of abduction, mild limitation of adduction, with retraction and narrowing of the palpebral fissure on attempted adduction. Two patients with this condition had a large medial rectus recession for a cosmetically unacceptable face turn and esotropia in primary position. Both patients had the unusual complication of severe limitation of adduction postoperatively.

Adult↗
PubMed1990

Duane's retraction syndrome.

Duane's retraction syndrome (DRS) is a congenital abnormality of ocular motility that occurs in about 1% of strabismic patients. Three types have been described and the clinical features include incomitant horizontal strabismus, restricted motility and globe retraction. Head turn, upshoot or downshoot of the adducted eye, and bilaterality may occasionally be present. Since strabismus is invariably present in DRS, careful assessment of extraocular motility should be performed on all children with a suspected or confirmed eye turn. Early diagnosis may save practitioners and parents hours of time and financial investment with orthoptic and surgical management attempts. A case of DRS is presented.

Duane Retraction Syndrome↗
PubMed1995

Greater severity of clinical features in older patients with Duane's retraction syndrome.

Duane's retraction syndrome (DRS) is a well-described entity. However, the possibility of this condition having progressive features has not been previously documented. We studied 21 consecutive patients with this disorder and found that the incidence of severe retraction on adduction, the occurrence of enophthalmos in the primary position and the presence of upshoots and downshoots were significantly higher in adults with type I DRS than in children. Awareness that the clinical features may increase in severity is important as parental counselling, coupled with effective communication to general practitioners, can prompt re-referral should such problems arise. Surgical intervention as a consequence, becomes an available option to correct disease progression.

Adolescent↗
PubMed1981

Central ocular motor abnormalities in Duane's retraction syndrome.

Duane's retraction syndrome (DRS) is a congenital eye movement disorder characterized by marked limitation or absence of abduction, variable limitation of adduction, and narrowing of the palpebral fissure with retraction of the globe on attempted adduction. We have recently recorded and quantitated ocular motility in five patients with unilateral DRS. In all patients, abduction of the affected eye was greatly limited, whereas adduction was limited, whereas adduction was limited to a lesser degree. Abnormalities in saccadic velocities were found in both the affected eye and the sound eye. Results of testing of the vestibulo-ocular reflex, optokinetic nystagmus, and optokinetic afternystagmus showed notable asymmetry. Our results suggest that DRS is produced by a primary brainstem abnormality involving premotor structures.

Adolescent↗
PubMed1999

Localization of a gene for Duane retraction syndrome to chromosome 2q31.

Duane retraction syndrome (DRS) is a congenital eye-movement disorder characterized by a failure of cranial nerve VI (the abducens nerve) to develop normally, resulting in restriction or absence of abduction, restricted adduction, and narrowing of the palpebral fissure and retraction of the globe on attempted adduction. DRS has a prevalence of approximately 0.1% in the general population and accounts for 5% of all strabismus cases. Undiagnosed DRS in children can lead to amblyopia, a permanent uncorrectable loss of vision. A large family with autosomal dominant DRS was examined and tested for genetic linkage. After exclusion of candidate regions previously associated with DRS, a genomewide search with highly polymorphic microsatellite markers was performed, and significant evidence for linkage was obtained at chromosome 2q31 (D2S2314 maximum LOD score 11.73 at maximum recombination fraction. 0). Haplotype analysis places the affected gene in a 17.8-cM region between the markers D2S2330 and D2S364. No recombinants were seen with markers between these two loci. The linked region contains the homeobox D gene cluster. Three of the genes within this cluster, known to participate in hindbrain development, were sequenced in affected and control individuals. Coding sequences for these genes were normal or had genetic alterations unlikely to be responsible for the DRS phenotype. Identifying the gene responsible for DRS may lead to an improved understanding of early cranial-nerve development.

Amino Acid Substitution↗
PubMed1997

Fourth ventricular ependymoma in a child with Duane retraction syndrome.

A child with unilateral Duane retraction syndrome developed signs and symptoms of increased intracranial pressure at 3 1/2 years of age. Neuroimaging disclosed a fourth ventricular ependymoma compressing but not invading the floor of the fourth ventricle. The coexistence of Duane syndrome and fourth ventricular ependymoma in a young child raises the possibility that both conditions could have resulted from a mutational event or focus of cellular disorganization (i.e. field defect) localized to the dorsal pons.

Cerebral Ventricle Neoplasms↗
PubMed2003

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.

Child↗
PubMed1999

Exclusion of candidate genetic loci for Duane retraction syndrome.

PURPOSE: To report preliminary linkage analysis of a large Hispanic family showing autosomal dominant inheritance for Duane retraction syndrome. METHODS: Microsatellite analysis was used to examine genomic DNA isolated from members of a large family with autosomal dominant Duane retraction syndrome for linkage to candidate loci for Duane retraction syndrome. Chromosomes 4, 8, and 22 were chosen for study because previous reports had documented karyotypic abnormalities in unrelated patients with Duane retraction syndrome. RESULTS: No lod scores over 0.5 were found for markers on chromosomes 4, 8, or 22. This analysis excludes these candidate sites. CONCLUSIONS: Studies do not support linkage between Duane retraction syndrome in this family and chromosomes 4, 8, and 22. Duane retraction syndrome may result from mutations in a heterogeneous group of genes.

Chromosomes, Human, Pair 22↗