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European Journal of Ophthalmology Mar 2021The aim was to evaluate the long-term motor outcome of superior rectus transposition procedure in patients affected by unilateral esotropic Duane retraction syndrome...
AIM
The aim was to evaluate the long-term motor outcome of superior rectus transposition procedure in patients affected by unilateral esotropic Duane retraction syndrome with residual esotropia and anomalous head position.
METHODS
A retrospective analysis of medical records of patients affected by esotropic Duane retraction syndrome who underwent superior rectus transposition procedure as reoperation for residual esotropia and/or residual anomalous head position. Amount of deviation, anomalous head position, duction limitation, globe retraction, presence of upshoot/downshoot, and vertical deviation were analyzed before and after superior rectus transposition procedure.
RESULTS
Twenty patients were selected. All patients underwent unilateral medial rectus recession or bilateral medial rectus recession, for unilateral esotropic Duane retraction syndrome at least 2 years before superior rectus transposition reoperation. Mean age at surgery (superior rectus transposition) was 12 ± 6.8 years, and the follow-up period was 2.7 ± 0.6. Mean deviations at distance and near before surgery were 19.5 ± 5.7 and 15.2 ± 6.8, respectively. Two patients showed upshoot. Head turn was 11.4 ± 5.1°; abduction limitation was -2.6 ± 0.9. After superior rectus transposition, all patients showed an improvement of esotropia at distance and near (8.1 ± 5.7 and 5.1 ± 5.6, respectively; < 0.05), anomalous head position (5.6 ± 3.9°; < 0.05), and abduction limitation (-2.3 ± 0.8; < 0.05). No statistically significant changes occurred in globe retraction. No adduction limitation, vertical deviation, and upshoot/downshoot were present after superior rectus transposition procedure. Results were stable during follow-up.
CONCLUSION
Superior rectus transposition procedure is an effective procedure in esotropic Duane retraction syndrome patients who previously undergone unilateral/bilateral medial rectus recession, with residual esotropia and anomalous head position. It allows improvement of esotropia, head turn, and partial recovery of abduction in a significant percentage of patients (30%) with no vertical complications.
Topics: Adolescent; Adult; Child; Disease Progression; Duane Retraction Syndrome; Eye Movements; Female; Follow-Up Studies; Humans; Male; Oculomotor Muscles; Ophthalmologic Surgical Procedures; Reoperation; Retrospective Studies; Time Factors; Young Adult
PubMed: 31888377
DOI: 10.1177/1120672119897889 -
Biochemical and Biophysical Research... Mar 2020The transcription factor, MafB, plays important role in the differentiation and functional maintenance of various cells and tissues, such as the inner ear, kidney...
The transcription factor, MafB, plays important role in the differentiation and functional maintenance of various cells and tissues, such as the inner ear, kidney podocyte, parathyroid gland, pancreatic islet, and macrophages. The rare heterozygous substitution (p.Leu239Pro) of the DNA binding domain in MAFB is the cause of Focal Segmental Glomerulosclerosis associated with Duane Retraction Syndrome, which is characterized by impaired horizontal eye movement due to cranial nerve maldevelopment in humans. In this research, we generated mice carrying MafB p.Leu239Pro (Mafb) and retrieved their tissues for analysis. As a result, we found that the phenotype of Mafb mouse was similar to that of the conventional Mafb deficient mouse. This finding suggests that the Leucine residue at 239 in the DNA binding domain plays a key role in MafB function and could contribute to the diagnosis or development of treatment for patients carrying the MafB p.Leu239Pro missense variant.
Topics: Animals; Animals, Newborn; Binding Sites; DNA; Ear; Humans; Kidney; MafB Transcription Factor; Mice, Knockout; Mice, Mutant Strains; Mutation; Mutation, Missense; Pancreas; Parathyroid Hormone; Phenotype
PubMed: 31882119
DOI: 10.1016/j.bbrc.2019.12.033 -
Optometry and Vision Science : Official... Dec 2019The overall objective of this study was to evaluate facial asymmetry in patients with unilateral Duane retraction syndrome (DRS). The results showed a high frequency of... (Comparative Study)
Comparative Study
SIGNIFICANCE
The overall objective of this study was to evaluate facial asymmetry in patients with unilateral Duane retraction syndrome (DRS). The results showed a high frequency of facial asymmetry parameters of the opposite side of head turn in unilateral DRS patients.
PURPOSE
The purposes of this study were to evaluate the characteristics of facial asymmetry in unilateral exotropic and esotropic DRS and to compare the findings with orthotropic subjects.
METHODS
This cross-sectional comparative case series study was performed in 44 consecutive patients with head turn caused by DRS and 44 orthotropic subjects from 2016 to 2019. Four pictures were taken from the patients' faces. The first and second pictures were taken when patients had head turn and when the head was completely straight for calculating the facial angle and relative facial size, respectively. The third and fourth pictures were taken when the head was positioned downward (to compare the size of the cheek) and upward (to evaluate nose asymmetry).
RESULTS
The mean ± SD age of DRS patients and orthotropic subjects was 16.23 ± 9.92 and 20.68 ± 11.82 years, respectively. The frequency of facial asymmetry and all facial parameters (cheek compression, nasal tip and columella deviation, and compression of one of the nostrils) was significantly higher in DRS patients compared with orthotropic subjects (P < .001). In DRS patients with facial asymmetry, columella and nasal tip deviation (P = .006) and cheek and face compression (P = .03) were significantly more prevalent in the opposite direction of head turn. In the DRS group, the mean ± SD age of the patients with and without facial asymmetry was 17.37 ± 9.76 and 7.40 ± 6.54 years, respectively (P = .02).
CONCLUSIONS
The frequency of facial asymmetry and all facial parameters was significantly higher in DRS patients compared with orthotropic subjects. In unilateral DRS patients, the face was more commonly affected on the opposite side of head turn.
Topics: Adolescent; Adult; Child; Child, Preschool; Cross-Sectional Studies; Duane Retraction Syndrome; Esotropia; Exotropia; Facial Asymmetry; Female; Head; Humans; Male; Young Adult
PubMed: 31834151
DOI: 10.1097/OPX.0000000000001452 -
Journal of AAPOS : the Official... Feb 2020Synergistic divergence is a congenital disorder with abnormal ocular motility. Various management options have been described but with few satisfactory outcomes. We...
Synergistic divergence is a congenital disorder with abnormal ocular motility. Various management options have been described but with few satisfactory outcomes. We describe 3 cases of synergistic divergence a technique of medial transposition of split lateral rectus augmented with equatorial fixation sutures in 3 children. Postoperatively the synergistic divergence disappeared, and eyes were aligned in the straight-ahead gaze with improved adduction and convergence in all 3 cases.
Topics: Child, Preschool; Duane Retraction Syndrome; Eye Movements; Humans; Male; Oculomotor Muscles; Postoperative Period; Suture Techniques; Sutures
PubMed: 31775057
DOI: 10.1016/j.jaapos.2019.10.004 -
The Journal of Craniofacial Surgery Sep 2019Oculo-auriculo-fronto-nasal syndrome (OAFNS) is a rare anomaly characterized by features overlapping those of frontonasal dysplasia (FND) and the...
Oculo-auriculo-fronto-nasal syndrome (OAFNS) is a rare anomaly characterized by features overlapping those of frontonasal dysplasia (FND) and the oculo-auriculo-vertebral spectrum (OAVS). The FND features malformation of frontonasal process-derived structures, characterized by anomalies in the central portion of the face. The OAVS is characterized by developmental anomalies of the first and second pharyngeal arches. The OAFNS is a condition with clinical features of both FND and OAVS.Here, the authors present the case of a male with OAFNS who not only exhibited typical OAFNS symptoms but also a dysplastic bony structure that bridged the anterior nasal spine and inferior nasal bones, and unilateral type 3 Duane retraction syndrome (absence of right-eye abduction). Abnormal nasal bones are characteristic of OAFNS; such abnormalities are absent from FND and OAVS. The authors reduced the dysplastic nasal bony structure via open external rhinoplasty, followed by lateral nasal osteotomy when he was 16 years of age. The nasal dorsum appeared natural after surgery and he was satisfied with the result.
Topics: Adolescent; Craniofacial Abnormalities; Duane Retraction Syndrome; Face; Humans; Hyperplasia; Male; Nasal Bone; Nose
PubMed: 31756883
DOI: 10.1097/SCS.0000000000005636 -
Journal of AAPOS : the Official... Dec 2019To report the effect of asymmetrical bilateral lateral rectus recession combined with augmented partial vertical rectus transposition (VRT) in the management of...
PURPOSE
To report the effect of asymmetrical bilateral lateral rectus recession combined with augmented partial vertical rectus transposition (VRT) in the management of exotropia, head turn, limited abduction, and anomalous vertical movements associated with unilateral exotropic Duane retraction syndrome (XT-DRS).
METHODS
The medical records of all patients with unilateral XT-DRS associated with limitation of abduction who underwent surgery during a 5-year period from 2013 to 2018 with at least 6 months' follow-up were reviewed retrospectively. Outcome measures were changes in head turn, primary position distance and near exodeviation, degree of limited abduction, and anomalous vertical movements on adduction.
RESULTS
A total of 11 patients (6 males) were included. Mean patient age was 16.3 years (range, 6-29). Exodeviation at distance and near fixation were corrected by means of 26.4 and 24.8, respectively. Head turn was improved by a mean of 17.3°. Limited abduction and anomalous vertical movements were corrected by means of 1.6 and 1.5 units, respectively. No patients developed symptomatic induced vertical deviation or anterior segment ischemia.
CONCLUSIONS
In our study cohort, the combined strategy of asymmetrical bilateral lateral rectus recession with unilateral augmented partial VRT yielded satisfactory results in the management of unilateral XT-DRS associated with limited abduction with no recorded intra- or postoperative complications.
Topics: Adolescent; Adult; Child; Duane Retraction Syndrome; Eye Movements; Female; Humans; Male; Oculomotor Muscles; Ophthalmologic Surgical Procedures; Retrospective Studies; Treatment Outcome; Vision, Binocular; Young Adult
PubMed: 31689501
DOI: 10.1016/j.jaapos.2019.09.013 -
Turk Pediatri Arsivi 2019Duane's syndrome is a rare retraction anomaly characterized by an innervation defect in the lateral rectus muscle, limitation of abduction and adduction due to the...
Duane's syndrome is a rare retraction anomaly characterized by an innervation defect in the lateral rectus muscle, limitation of abduction and adduction due to the result of abnormal innervation of the horizontal rectus muscles, changes in the eyelid fissures, and abnormal vertical eye movements. The affected eye is displaced up and/or down in adduction. This syndrome, also known as Stilling-Turk-Duane syndrome, accounts for approximately 1 to 5% of all strabismus cases. In this article, we present a one-and-a-half-year-old male patient who had abnormal head position, and was diagnosed as having Duane retraction syndrome. Through this study, we want to draw attention to Duane retraction syndrome, which is one of the rare causes of strabismus.
PubMed: 31619934
DOI: 10.14744/TurkPediatriArs.2018.6116 -
International Journal of Pediatric... Nov 2019Duane's Retraction Syndrome (DRS), a congenital cranial dysinnervation disorder, accounts for 5% of all strabismus. A vascular anomaly in DRS, which became clinically...
Duane's Retraction Syndrome (DRS), a congenital cranial dysinnervation disorder, accounts for 5% of all strabismus. A vascular anomaly in DRS, which became clinically relevant in the context of significant epistaxis, is presented. A 15-year-old girl with DRS underwent a rhinological procedure for traumatic nasal deformity and suffered large volume epistaxis. Using angiography, an anatomical variation was identified, noting the ophthalmic artery was supplied by branches from the sphenopalatine artery, facial artery, and middle meningeal artery; not from the internal carotid artery. Hence epistaxis control was achieved via alternative methods, and unilateral blindness was avoided.
Topics: Adolescent; Angiography; Blindness; Carotid Artery, Internal; Duane Retraction Syndrome; Embolization, Therapeutic; Epistaxis; Female; Humans; Nasal Obstruction; Ophthalmic Artery; Postoperative Cognitive Complications; Rhinoplasty; Strabismus
PubMed: 31416016
DOI: 10.1016/j.ijporl.2019.109615 -
Scientific Reports Aug 2019Thalidomide is widely used for several diseases; however, it causes malformations in embryos exposed during pregnancy. The complete understanding of the mechanisms by...
Thalidomide is widely used for several diseases; however, it causes malformations in embryos exposed during pregnancy. The complete understanding of the mechanisms by which thalidomide affects the embryo development has not yet been obtained. The phenotypic similarity makes TE a phenocopy of syndromes caused by mutations in ESCO2, SALL4 and TBX5 genes. Recently, SALL4 and TBX5 were demonstrated to be thalidomide targets. To understand if these genes act in the TE development, we sequenced them in 27 individuals with TE; we verified how thalidomide affect them in human pluripotent stem cells (hPSCs) through a differential gene expression (DGE) analysis from GSE63935; and we evaluated how these genes are functionally related through an interaction network analysis. We identified 8 variants in ESCO2, 15 in SALL4 and 15 in TBX5. We compared allelic frequencies with data from ExAC, 1000 Genomes and ABraOM databases; eight variants were significantly different (p < 0.05). Eleven variants in SALL4 and TBX5 were previously associated with cardiac diseases or malformations; however, in TE sample there was no association. Variant effect prediction tools showed 97% of the variants with potential to influence in these genes regulation. DGE analysis showed a significant reduction of ESCO2 in hPSCs after thalidomide exposure.
Topics: Abnormalities, Multiple; Acetyltransferases; Brazil; Cell Line; Chromosomal Proteins, Non-Histone; Craniofacial Abnormalities; Datasets as Topic; Duane Retraction Syndrome; Ectromelia; Female; Gene Expression Profiling; Gene Frequency; Genetic Predisposition to Disease; Heart Defects, Congenital; Heart Septal Defects, Atrial; Humans; Hypertelorism; Leprosy; Lower Extremity Deformities, Congenital; Male; Mutation; Pluripotent Stem Cells; Polymorphism, Single Nucleotide; Pregnancy; Pregnancy Complications; Protein Interaction Maps; T-Box Domain Proteins; Teratogenesis; Thalidomide; Transcription Factors; Upper Extremity Deformities, Congenital
PubMed: 31388035
DOI: 10.1038/s41598-019-47739-8