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Journal of AAPOS : the Official... Oct 2020To report the incidence of symptomatic vertical and torsional diplopia after superior rectus transposition (SRT) for esotropic Duane syndrome and abducens nerve palsy.
PURPOSE
To report the incidence of symptomatic vertical and torsional diplopia after superior rectus transposition (SRT) for esotropic Duane syndrome and abducens nerve palsy.
METHODS
The medical records of patients with esotropic Duane syndrome or abducens nerve palsy seen at Boston Children's Hospital (2006-2018) and treated with unilateral SRT with or without augmentation was performed. The primary outcome was incidence of postoperative vertical or torsional diplopia in primary position. The secondary outcome was induced vertical deviation in affected side gaze.
RESULTS
A total of 69 patients met inclusion criteria: 32 with abducens nerve palsy and 37 with esotropic Duane syndrome. Vertical alignment changed in both hyper- and hypotropic directions. Median pre- and postoperative vertical deviation in primary gaze was 1.1 (10th-90th percentile, 0-6 hypertropia) and 0.4 (10th-90th percentile, 6 hypotropia to 8 hypertropia), respectively. Postoperative vertical diplopia occurred in 7%, including 4 of 49 treated with loop myopexy (8%), 1 of 13 without augmentation (8%), and 0 of 7 treated with sclera-fixated augmentation. All but one was successfully treated with prism or secondary surgery. Intorsional change predominated, but no patient had torsional diplopia post adjustment. Vertical misalignment in affected side gaze increased from 19% to 45% after SRT (P = 0.01).
CONCLUSIONS
In this largest-to-date review of patients treated with SRT, with or without MR recession, no patient developed persistent torsional diplopia, while 7% developed symptomatic vertical diplopia in primary position, similar to the reported incidence after balanced vertical rectus transposition. Vertical misalignment in affected side gaze increased, however fusion is already limited by unresolved esotropia in this field.
Topics: Abducens Nerve Diseases; Child; Diplopia; Duane Retraction Syndrome; Esotropia; Eye Movements; Humans; Incidence; Oculomotor Muscles; Ophthalmologic Surgical Procedures; Retrospective Studies; Vision, Binocular
PubMed: 33045373
DOI: 10.1016/j.jaapos.2020.05.014 -
Scientific Reports Oct 2020Duane retraction syndrome (DRS) is a neuromuscular dysfunction of the eyes. Although many causative genes of DRS have been identified in Europe and the United States,...
Duane retraction syndrome (DRS) is a neuromuscular dysfunction of the eyes. Although many causative genes of DRS have been identified in Europe and the United States, few reports have been published in regard to Chinese DRS. The aim of the present study was to explore the genetic defect of DRS in a Chinese family. Exome sequencing was used to identify the disease-causing gene for the two affected family members. Ophthalmic and physical examinations, as well as genetic screenings for variants in chimerin 1 (CHN1), were performed for all family members. Functional analyses of a CHN1 variant in 293T cells included a Rac-GTP activation assay, α2-chimaerin translocation assay, and co-immunoprecipitation assay. Genetic analysis revealed a NM_001822.7: c.637T > G variant in the CHN1 gene, which resulted in the substitution of a highly conserved C1 domain with valine at codon 213 (NP_001813.1: p.(Phe213Val)) (ClinVar Accession Number: SCV001335305). In-silico analysis revealed that the p.(Phe213Val) substitution affected the protein stability and connections among the amino acids of CHN1 in terms of its tertiary protein structure. Functional studies indicated that the p.(Phe213Val) substitution reduced Rac-GTP activity and enhanced membrane translocation in response to phorbol-myristoyl acetate (PMA). Together with previous studies, our present findings demonstrate that CHN1 may be an important causative gene for different ethnicities with DRS.
Topics: Adolescent; Adult; Asian People; Child; Chimerin 1; Duane Retraction Syndrome; Family; Female; Humans; Male; Middle Aged; Mutation, Missense; Pedigree; Young Adult
PubMed: 33004823
DOI: 10.1038/s41598-020-73190-1 -
Journal of AAPOS : the Official... Oct 2020To report the results of adjustable graded augmentation of superior rectus transposition, a novel modification of superior rectus transposition (SRT) designed to reduce...
PURPOSE
To report the results of adjustable graded augmentation of superior rectus transposition, a novel modification of superior rectus transposition (SRT) designed to reduce postoperative vertical or torsional diplopia.
METHODS
The medical records of patients who underwent adjustable graded augmentation of SRT with or without adjustable medial rectus recession (MRc) from February 2017 to December 2019 were reviewed retrospectively. A Mendez ring was used to monitor torsional change after transposition of the superior rectus muscle to the lateral rectus muscle and after sequential placement of 2 or 3 augmentation sutures by superior rectus-lateral rectus loop myopexy. If excessive mechanical intorsion was induced, the responsible augmentation suture was severed intraoperatively. If torsional or vertical diplopia was noted after recovery, the distal-most augmentation suture was cut. Exotropia was managed by severing the distal-most augmentation suture or by medial rectus adjustment.
RESULTS
A total of 8 patients who underwent adjustable graded augmentation of SRT were included (6 using the 3-suture technique): 3 for esotropic Duane syndrome, 2 for abducens nerve palsy, 1 for Moebius syndrome, and 2 for combined trochlear and abducens nerve palsies. Of the 8 patients, 4 had prior strabismus surgery, and 1 patient had previously undergone treatment with botulinum toxin. Severing one augmentation suture in 3 cases resolved vertical (n = 2) or torsional (n = 1) diplopia and consecutive exotropia (n = 2), resulting in excellent alignment and reduction of torticollis to ≤4° in 7 cases. The technique proved insufficient in 1 patient, who had undergone 3 prior strabismus procedures.
CONCLUSIONS
In this study cohort, adjustable graded augmentation of SRT effectively managed the risk of postoperative vertical or torsional diplopia.
Topics: Abducens Nerve Diseases; Duane Retraction Syndrome; Humans; Oculomotor Muscles; Ophthalmologic Surgical Procedures; Retrospective Studies; Suture Techniques; Vision, Binocular
PubMed: 32977023
DOI: 10.1016/j.jaapos.2020.05.013 -
Indian Journal of Ophthalmology Oct 2020The purpose of this study was to investigate the structural changes (axial length, central macular thickness (CMT), subfoveal choroidal thickness, and keratometry) in...
PURPOSE
The purpose of this study was to investigate the structural changes (axial length, central macular thickness (CMT), subfoveal choroidal thickness, and keratometry) in subjects with unilateral Duane retraction syndrome (DRS) as compared with the normal fellow eye.
METHODS
In this prospective study, we included 34 subjects with unilateral DRS from January 2016 to December 2016 seen at our institute. Data was collected for axial length, keratometry using partial coherence interferometry, CMT, subfoveal choroidal thickness using the enhanced depth imaging-optical coherence tomography (EDI-OCT). All these measurements were compared between the affected and fellow eye.
RESULTS
During this period, we included 34 subjects with unilateral DRS (22 Type I, 1 Type II, and 11 Type III). The mean age (±SD) of subjects was 14 ± 8 years (range: 5-28 years). There were 15 males and 19 females. Eyes with DRS were significantly shorter (median axial length 22.4 mm, interquartile range (IQR): 21.56 - 23.17) as compared to fellow eye (median axial length 22.7 mm, IQR: 22.35-23.55), P = 0.04. Choroidal thickness, CMT, and average keratometry were similar in DRS and fellow eyes (P = 0.39, 0.06, and 0.11, respectively). A significant difference in axial length was found only between Type I and Type III DRS (P = 0.03).
CONCLUSION
This study suggests that in subjects with DRS, the affected eye has shorter median axial length when compared with the fellow eye. Prevalence of refractive error in eye with DRS was higher compared to fellow eye. But, there was no difference in magnitude of refractive error found between eye with DRS and normal fellow eye.
Topics: Adolescent; Adult; Axial Length, Eye; Child; Child, Preschool; Choroid; Duane Retraction Syndrome; Female; Humans; Male; Prospective Studies; Tomography, Optical Coherence; Visual Acuity; Young Adult
PubMed: 32971639
DOI: 10.4103/ijo.IJO_123_20 -
Journal of Pediatric Ophthalmology and... Sep 2020To compare the results of augmented superior rectus transposition (with or without medial rectus recession) with simple medial rectus recession in the treatment of... (Randomized Controlled Trial)
Randomized Controlled Trial
PURPOSE
To compare the results of augmented superior rectus transposition (with or without medial rectus recession) with simple medial rectus recession in the treatment of patients with esotropic Duane retraction syndrome.
METHODS
This was a prospective, randomized, and interventional comparative study of 20 patients with esotropic type 1 Duane retraction syndrome. Patients were randomly divided into two groups. In the first group (superior rectus transposition group), superior rectus transposition with or without medial rectus recession was performed. In the second group (non-superior rectus transposition group), unilateral medial rectus recession was performed.
RESULTS
Each group included 10 patients. Esotropia improved from 20.4 prism diopters (PD) preoperatively to 0.6 PD postoperatively in the superior rectus transposition group and from 22.5 PD preoperatively to 0.9 PD postoperatively in the non-superior rectus transposition group. Face turn improved from 11.5° preoperatively to 0.5° postoperatively in the superior rectus transposition group and from 12° preoperatively to 1.5° postoperatively in the non-superior rectus transposition group. Abduction improved in the superior rectus transposition group from -3.9 preoperatively to -3.1 postoperatively and from -3.9 preoperatively to -3.6 postoperatively in the non-superior rectus transposition group. Vertical deviation developed in two cases in the superior rectus transposition group.
CONCLUSIONS
Both superior rectus transposition and medial rectus recession are effective in the elimination of esotropia and face turn in patients with esotropic Duane retraction syndrome. Superior rectus transposition is more effective in improving abduction, but it can be complicated by vertical deviation. [J Pediatr Ophthalmol Strabismus. 2020;57(5):309-318.].
Topics: Adolescent; Child; Child, Preschool; Duane Retraction Syndrome; Esotropia; Eye Movements; Female; Follow-Up Studies; Humans; Infant; Male; Oculomotor Muscles; Ophthalmologic Surgical Procedures; Prospective Studies; Tendon Transfer; Treatment Outcome; Vision, Binocular; Visual Acuity; Young Adult
PubMed: 32956481
DOI: 10.3928/01913913-20200506-02 -
Graefe's Archive For Clinical and... Jan 2021For some patients with complex ocular motility disorders, conventional strabismus surgery is insufficient. Surgery with tendon elongation allows correction of larger...
BACKGROUND
For some patients with complex ocular motility disorders, conventional strabismus surgery is insufficient. Surgery with tendon elongation allows correction of larger angles and maintains a sufficient arc of contact for rectus muscles. This study reports results for tendon elongation with bovine pericardium (Tutopatch®) in indications other than Graves' orbitopathy in which it is already widely used.
METHODS
We reviewed the records of all patients who underwent surgery with Tutopatch® in our institution. Angles of squint and head postures were analyzed preoperatively, on the first postoperative day, and in the long term (median 9 weeks after the operation). Patients with Graves' orbitopathy were excluded.
RESULTS
From 2011 to 2018, the procedures on 58 eyes of 54 patients (35 females, median age 35 years (3-75)) met the inclusion criteria. Horizontal rectus muscle surgery (53 eyes) was conducted on patients with residual strabismus (13), Duane's retraction syndrome with eso- (type I: 16)/exodeviation (type II: 2, type III: 1), 6th (7)/3rd nerve palsy (7), Möbius syndrome (2), congenital fibrosis of the extraocular muscles type 3A (CFEOM3A, TUBB3 mutation) (4), and orbital apex syndrome (1). Vertical rectus muscle surgery (5 eyes) was conducted on patients with myasthenia (1), vertical tropia after orbital floor fracture (1), CFEOM1 (2), and Parry-Romberg syndrome (1). 42 eyes had prior eye muscle surgery (1-5 procedures, median 1). Out of 45 patients with postoperative long-term data, 43 showed an angle reduction. Fifty-one percent had an angle of 10Δ (prism diopter) or less, one had a significant over-effect, and 10 had revision surgery. For the heterogeneous group of residual eso- and exotropias, the median absolute horizontal angle was reduced from 35Δ (16 to 45Δ) to 9Δ (0 to 40Δ), for Duane's retraction syndrome from 27.5Δ (9 to 40Δ) to 7Δ (0 to 40Δ), and for sixth and third nerve palsies from 43Δ (20 to 75Δ) to 18Δ (4 to 40Δ). For 3 patients with vertical rectus muscle surgery, the median absolute vertical angle was reduced from 30Δ (20 to 45Δ) to 4Δ (1 to 22Δ). The motility range was shifted in the direction contrary to the elongated muscle in all subgroups. A considerable reduction of the excursion into the field of action of the elongated muscle had to be registered.
CONCLUSIONS
Strabismus surgery with bovine pericardium introduces new surgical options for complicated revisions and for rare and complex oculomotor dysfunctions. Yet, it has to be recognized that this type of surgery aiming at maximum effects, despite preservation or restitution of the arc of contact, leads to reduction of the excursion into the field of action of the elongated muscle. Furthermore, dose finding can be difficult depending on the underlying pathology and more than one intervention might be necessary for optimal results.
Topics: Adult; Animals; Cattle; Female; Graves Ophthalmopathy; Humans; Oculomotor Muscles; Ophthalmologic Surgical Procedures; Pericardium; Retrospective Studies; Strabismus; Tendons; Treatment Outcome
PubMed: 32949299
DOI: 10.1007/s00417-020-04939-7 -
Molecular Cytogenetics 2020Monosomy of 1p36 is considered the most common terminal microdeletion syndrome. It is characterized by intellectual disability, growth retardation, seizures, congenital...
BACKGROUND
Monosomy 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 PRESENTATION
We 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.
DISCUSSION
Our 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 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.
PubMed: 32939224
DOI: 10.1186/s13039-020-00510-5 -
Eye (London, England) Jun 2021To report ocular motility patterns that mimic, but do not fulfil the full clinical picture of Duane retraction syndrome (DRS) and to describe their clinical features and...
PURPOSE
To report ocular motility patterns that mimic, but do not fulfil the full clinical picture of Duane retraction syndrome (DRS) and to describe their clinical features and surgical management.
METHODS
This is a retrospective case series study conducted on patients with DRS, mimicking non-comitant exotropia or esotropia and a face turn. Patients were included only if they lacked either globe retraction on adduction (sine retraction) or limitation of adduction or abduction on ductions (sine limitation not >0.5). Any overshoots or pattern strabismus was recorded. The ocular motility and alignment, details of surgery and their surgical outcomes were analysed.
RESULTS
Twenty-one patients were identified; 13 in the sine retraction and 8 in the sine limitation group. All patients presented with a compensatory face turn. Overshoots were present in 10 (77%) and 7 patients (88%) in the sine retraction and sine limitation groups, respectively. Forced duction test showed tightness of the ipsilateral medial and the ipsilateral lateral rectus muscle in esotropic (n = 3) and exotropic patients (n = 18), respectively. Orthotropia was achieved in 82% of patients following ipsilateral medial or lateral rectus muscle recession.
CONCLUSIONS
There is a subset of patients who present with motility pattern similar to DRS but lack its complete diagnostic criteria. The presence of a face turn, overshoots on adduction or an ipsilateral tightness of the affected muscle should make one consider DRS sine retraction/sine limitation. The patients in our study responded well to lines of management similar to those of DRS.
Topics: Duane Retraction Syndrome; Esotropia; Humans; Oculomotor Muscles; Ophthalmologic Surgical Procedures; Retrospective Studies; Vision, Binocular
PubMed: 32839562
DOI: 10.1038/s41433-020-1118-3 -
Graefe's Archive For Clinical and... Jan 2021To investigate the relationship between ocular motility and lateral rectus (LR) muscle volume according to the presence or absence of the abducens nerve in patients with...
PURPOSE
To investigate the relationship between ocular motility and lateral rectus (LR) muscle volume according to the presence or absence of the abducens nerve in patients with Duane's retraction syndrome (DRS) using high-resolution magnetic resonance imaging (MRI).
METHODS
A total of 54 unilateral DRS patients were divided into two groups according to high-resolution MRI findings: DRS without an abducens nerve on the affected side (absent CN6 group, n = 45) and DRS with symmetric abducens nerves on both sides (present CN6 group, n = 9). Ocular motility was measured by image analysis based on nine gaze photographs. LR volume was measured on T2-weighted coronal MRI of the orbit, and the ratio of paretic/normal side (P/N) LR volume was investigated. Association of the abducens nerve with various parameters including ocular motility, LR volume, and ratios of P/N LR volume were determined.
RESULTS
LR volume was smaller in the affected eye than the non-affected eye in both groups. In the present CN6 group, abducens nerve diameter and the ratio of P/N LR volume showed a positive correlation. A smaller LR volume and more limitation of abduction in the affected eye were predictive of an absent abducens nerve in DRS.
CONCLUSIONS
LR muscle hypoplasia was apparent in the affected eye of DRS patients. Abducens nerve diameter positively correlated with the ratio of P/N LR volume in the present CN6 group. Graphical abstract.
Topics: Abducens Nerve; Abducens Nerve Diseases; Duane Retraction Syndrome; Eye Movements; Humans; Oculomotor Muscles
PubMed: 32820345
DOI: 10.1007/s00417-020-04845-y -
Journal of Neuro-ophthalmology : the... Sep 2020For many years, it was unclear whether Duane retraction syndrome was a myopathic or neuropathic condition. This article describes the direct and indirect contributions...
For many years, it was unclear whether Duane retraction syndrome was a myopathic or neuropathic condition. This article describes the direct and indirect contributions of William F. Hoyt, MD, to the eventual determination that the condition is caused by a congenital absence of the sixth nerve combined with innervation of the lateral rectus muscle by branches of the third nerve.
Topics: Duane Retraction Syndrome; Eye Movements; Humans; Oculomotor Muscles
PubMed: 32796341
DOI: 10.1097/WNO.0000000000000990