Disease relevance of DURS1

• The congenital fibrosis syndromes (CFS) represent a subset of monogenic isolated strabismic disorders that are characterized by restrictive ophthalmoplegia, and include congenital fibrosis of the extraocular muscles (CFEOM) and Duane syndrome (DURS) [1].
• PURPOSE: To identify the gene disrupted by a de novo reciprocal balanced translocation t(6;8)(q26;q13) in a patient with Duane retraction syndrome (DURS) [2].
• Nine patients underwent simultaneous or staged detachment of the vertical and medial rectus muscles in the treatment of sixth nerve palsy or Duane's retraction syndrome [3].
• CONCLUSIONS: Strabismus and amblyopia are much more common with bilateral DRS than with unilateral DRS [4].
• This procedure has been employed in patients with dissociated vertical deviations, nystagmus compensation (blockage) syndrome, double-elevator paresis, nonaccommodative convergence excess, and Duane's retraction syndrome [5].

Psychiatry related information on DURS1

• Surgery for Duane's Retraction Syndrome and superior oblique palsy, vergence adaptation in kids, depth perception in eye surgery; new surgery: IO-ANT [6]?
• CONCLUSIONS: Diagnosis of DRS in a typical case is not difficult, however, children with bilateral abduction deficits which may mimic DRS must be differentiated from the following four motility disorders, namely, abducens nerve palsy, Moebius syndrome, congenital oculomotor apraxia, and congenital or infantile esotropia [7].

High impact information on DURS1

• The affected members represent a genetically defined population of DURS2-linked DRS individuals, and hence studies of their clinical and structural features can enhance understanding of the DURS2 phenotype, as described in the companion paper [8].
• METHODS: Members of two large dominant DRS pedigrees were enrolled in an ongoing study of the genetic basis of the congenital cranial dysinnervation disorders, and linkage analysis was conducted to determine whether their DRS phenotype maps to the DURS2 locus [8].
• RESULTS: A carboxypeptidase gene (CPAH) was directly interrupted between the first and second exons in a patient with DURS who carried a de novo reciprocal balanced translocation t(6;8)(q26;q13) involving the DURS1 region on chromosome arm 8q13 [2].
• The break point in chromosome arm 8q is positioned within the DURS1 critical region [2].
• METHODS: Fluorescence in situ hybridization (FISH) analysis using cosmid and BAC clones covering the DURS1 locus was performed to define the break point position and its relationship with expressed sequence tags (ESTs) in the region [2].

Biological context of DURS1

• RESULTS: By haplotype analysis, the DRS phenotype in each family cosegregates with markers spanning the DURS2 region [8].
• Linkage analysis reveals maximum lod scores >2, establishing that the DRS phenotype in these two pedigrees maps to the DURS2 locus [8].
• Eighteen patients with sporadic DURS without cytogenetic abnormalities involving the DURS1 region were screened for point mutations in the candidate DURS1 gene [2].
• 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 [9].
• 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 [10].

Anatomical context of DURS1

• This comprises Klippel Feil's (KF) anomaly (congenitally fused cervical vertebrae), congenital sensorineural deafness and Duane's retraction syndrome (deficient abduction with retraction on adduction) [11].
• The absence of the abducens nerve suggests DRS strongly in children with abduction deficit [12].
• This report presents evidence that a cranial nerve anomaly may cause DRS [13].
• In a case of unilateral DRS, the right side of the brainstem, cavernous sinus, and orbit were completely normal [14].
• Duane's retraction syndrome associated with optic nerve hypoplasia [15].

Associations of DURS1 with chemical compounds

• CONCLUSION: DRS is characterized by abnormal development of the cells in the abducens nucleus (CN VI), resulting in restricted or absent abduction and erroneous innervation of the lateral rectus by branches emanating from oculomotor nuclei (CN III) [16].
• Examination revealed an ocular exam consistent with Duane's retraction syndrome, clinical and radiographic evidence of congenital fusion of C2 and C3 demonstrative of the Klippel-Feil anomaly, and a sensorineural hearing loss confirmed by audiometry [17].

Other interactions of DURS1

• Magnetic Resonance Imaging Evidence for Widespread Orbital Dysinnervation in Dominant Duane's Retraction Syndrome Linked to the DURS2 Locus [18].
• It must be distinguished from Duane's retraction syndrome, Moebius syndrome, nystagmus blockage syndrome, and early onset accommodative esotropia, as well as other causes of esotropia in infancy [19].
• BACKGROUND: The cervico-oculo-acoustic syndrome comprises Klippel-Feil anomaly, sensorineural deafness and Duane's retraction syndrome [20].
• Factors potentially predicting the upshoot-downshoot phenomenon that were studied included patient age, type of Duane's retraction syndrome, horizontal strabismus, and vertical tropia in the primary position of gaze [21].
• Duane's retraction syndrome in association with retinitis pigmentosa [22].

Analytical, diagnostic and therapeutic context of DURS1

• 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 [23].
• PATIENTS AND METHODS: This was a retrospective study of patients undergoing surgery for Duane's retraction syndrome type I. Thirty-six patients were treated by transposition of both vertical rectus muscles in combination with medial rectus recession of the affected eye [24].
• A direct ultrasound ranging system (DURS) has been developed for the quantitative evaluation of gait velocity [25].
• OBJECTIVE: To summarize the clinical features of 201 cases with Duane's retraction syndrome (DRS) and discuss its differential diagnosis [7].

References