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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 Clinical Medicine Jun 2020To investigate the morphometric characteristics of the oculomotor nerve and its association with horizontal rectus muscle volume in patients with Duane's retraction...
OBJECTIVE
To investigate the morphometric characteristics of the oculomotor nerve and its association with horizontal rectus muscle volume in patients with Duane's retraction syndrome (DRS) according to the presence of the abducens nerve.
METHODS
Fifty patients diagnosed with unilateral DRS were divided into two groups according to high-resolution magnetic resonance imaging (MRI) findings; DRS without an abducens nerve on the affected side (absent group, = 41), and DRS with symmetric abducens nerves on both sides (present group, = 9). Oculomotor nerve diameter was measured on high-resolution MRI in the middle of the cisternal space. The medial rectus muscle (MR) and lateral rectus muscle (LR) volumes were measured on T2-weighted coronal MRI of the orbit. Associations of oculomotor nerve diameter and horizontal rectus muscle volumes were performed according to the presence and absence of the abducens nerve.
RESULTS
Oculomotor nerve diameter on the affected side was thicker than that of the non-affected side in the absent group ( < 0.001), but not in the present group ( = 0.623). In the absent group, there was a positive correlation between oculomotor nerve diameter and MR volume ( = 0.779, < 0.001), as well as the LR volume ( = 668, = 0.023) of the affected eye.
CONCLUSIONS
In DRS patients with an absent abducens nerve, the oculomotor nerve diameter was thicker in the affected eye compared to the non-affected eye. Oculomotor nerve diameter was associated with MR and LR volumes in the absent group. This study provides structural correlates of aberrant innervation of the oculomotor nerve in DRS patients.
PubMed: 32599889
DOI: 10.3390/jcm9061983 -
Journal of Ophthalmic & Vision Research 2023To evaluate the frequency of facial asymmetry parameters in patients with head tilt versus those with head turn.
PURPOSE
To evaluate the frequency of facial asymmetry parameters in patients with head tilt versus those with head turn.
METHODS
This cross-sectional comparative study was performed on 155 cases, including 58 patients with congenital pure head turn due to Duane retraction syndrome (DRS), 33 patients with congenital pure head tilt due to upshoot in adduction or DRS, and 64 orthotropic subjects as the control group. The facial appearance was evaluated by computerized analysis of digital photographs of patients' faces. Relative facial size (the ratio of the distance between the external canthus and the corner of the lips of both face sides) and facial angle (the angular difference between a line that connects two external canthi and another line that connects the two corners of the lips) measured as quantitative facial parameters. Qualitative parameters were evaluated by the presence of one-sided face, cheek, and nostril compression; and columella deviation.
RESULTS
The facial asymmetry frequency in patients with head tilt, head turn, and orthotropic subjects was observed in 32 (97%), 50 (86.2%), and 22 (34.3%), respectively ( 0.001). In patients with head tilt and head turn, the mean facial angle was 1.78º 1.01º and 1.19º 0.84º, respectively ( = 0.004) and the mean relative facial size was 1.027 0.018 and 1.018 0.014, respectively ( = 0.018). The frequencies of one-sided nostril compression, cheek compression, face compression, and columella deviation in patients with pure head tilt were found in 19 (58%), 21 (64%), 19 (58%), and 19 (58%) patients, respectively, and in patients with pure head turn the frequencies were observed in 42 (72%), 37 (63%), 27 (47%), and 43 (74%), respectively. All quantitative and qualitative facial asymmetry parameters and facial asymmetry frequencies were significantly higher in head tilt and head turn patients as compared to the control group ( 0.001).
CONCLUSION
All facial asymmetry parameters in patients with head tilt and head turn were significantly higher than orthotropic subjects. The quantitative parameters such as relative facial size and facial angle were significantly higher in patients with pure head tilt than pure head turn. The results revealed that pure head tilt was associated with a higher prevalence of facial asymmetry than pure head turn.
PubMed: 37600919
DOI: 10.18502/jovr.v18i3.13778 -
Cureus Oct 2022Duane retraction syndrome (DRS) with mechanical and innervational upshoot poses a surgical challenge. We discuss a case of DRS with mechanical and innervational upshoot...
Duane retraction syndrome (DRS) with mechanical and innervational upshoot poses a surgical challenge. We discuss a case of DRS with mechanical and innervational upshoot and its surgical management. An 11-year-old boy presented with left eye upward deviation since birth. This deviation was worst on the right gaze. His best corrected visual acuity was 6/6 OD and 6/60 OS. Refraction showed low hyperopia with low astigmatism in both eyes. Stereoacuity was absent and there was suppression on the Worth 4 dot test in the left eye. The left eye had large hypertropia of 50 prism diopter in primary gaze. Extraocular movements showed severe upshoot and narrowing of palpebral fissures on adduction and limited abduction (-2). The patient underwent Y-splitting of the left lateral rectus (LR) muscle of 10 mm, LR recession of 4 mm, and left eye superior rectus recession of 12 mm. A marked reduction in hypertropia in primary gaze was observed on day one and at two months postoperatively with residual upshoot on adduction. His left eye deviation remained stable after six months postoperatively.
PubMed: 36415378
DOI: 10.7759/cureus.30470 -
Orphanet Journal of Rare Diseases Dec 2022Congenital cranial dysinnervation disorders (CCDDs) are a group of diseases with high clinical and genetic heterogeneity. Clinical examinations combined with Magnetic...
BACKGROUND
Congenital cranial dysinnervation disorders (CCDDs) are a group of diseases with high clinical and genetic heterogeneity. Clinical examinations combined with Magnetic resonance imaging (MRI) and whole exome sequencing (WES) were performed to reveal the phenotypic and genotypic characteristics in a cohort of Chinese CCDDs patients.
RESULTS
A total of 122 CCDDs patients from 96 families were enrolled. All patients showed restrictive eye movements, and 46 patients from 46 families (47.9%, 46/96) were accompanied by multiple congenital malformations. Multi-positional high-resolution MRI was performed in 94 patients from 88 families, of which, all patients had hypoplasia of the cranial nerves except HGPPS patients and 15 patients from 15 families (17.0%,15/88) were accompanied by other craniocerebral malformations. WES was performed in 122 CCDDs patients. Ten pathogenic variants were detected in KIF21A, TUBB3, and CHN1 genes in 43 families. Three variants were unreported, including KIF21A (c.1064T > C, p.F355S), TUBB3 (c.232T > A, p.S78T) and CHN1 (c.650A > G, p.H217R). Of the 43 probands harboring pathogenic variants, 42 were diagnosed with Congenital Fibrosis of Extraocular Muscles (CFEOM) and one was Duane Retraction Syndrome (DRS). No definite pathogenic variants in known candidate genes of CCDDs were found in sporadic DRS, Möbius Syndrome (MBS) and Horizontal Gaze Palsy with Progressive Scoliosis (HGPPS) patients. The CFEOM patients harboring R380C, E410K and R262H variants in TUBB3 gene and F355S variant in KIF21A gene exhibited syndromic phenotypes.
CONCLUSIONS
This study broadened the phenotypic and genotypic spectrums of CCDDs, and it was the largest clinical and genetic investigation for CCDDs patients from China. KIF21A and TUBB3 were the common pathogenic genes in Chinese CFEOM. MRI coupled with WES can provide a supportive diagnosis in patients with clinically suspected CCDDs.
Topics: Humans; Congenital Cranial Dysinnervation Disorders; East Asian People; Duane Retraction Syndrome; Mobius Syndrome; Ophthalmoplegia; Fibrosis
PubMed: 36494820
DOI: 10.1186/s13023-022-02582-5 -
Journal of Ophthalmic & Vision Research 2020To report unilateral congenital cataract in a case of ipsilateral Duane retraction syndrome.
PURPOSE
To report unilateral congenital cataract in a case of ipsilateral Duane retraction syndrome.
CASE REPORT
In this case, we present a six year old girl who was referred with ocular deviation. She had a history of congenital cataract surgery in the left eye at the age of two years. The subject had no associated systemic disease, developmental delay, or positive family history. She was finally diagnosed as having Duane retraction syndrome in the same eye.
CONCLUSION
Duane retraction syndrome can be associated with congenital cataract due to the matching time of gestational development of the lens to that of ocular and non-ocular anomalies associated with Duane syndrome. As both of these disorders are rare, coincidence of both in the same person and the same eye by chance is a very remote possibility.
PubMed: 32095213
DOI: 10.18502/jovr.v15i1.5952 -
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 -
Journal of Pediatric Ophthalmology and... 2024Restrictive strabismus is a known complication of orbitozygomatic craniotomy. However, a pseudo-Duane syndrome has not been described following this procedure. The...
Restrictive strabismus is a known complication of orbitozygomatic craniotomy. However, a pseudo-Duane syndrome has not been described following this procedure. The authors describe a 58-year-old woman who after craniotomy developed incomitant left exotropia with an adduction deficit; the globe retracted and palpebral fissure narrowed with attempted ocular adduction. .
Topics: Female; Humans; Middle Aged; Duane Retraction Syndrome; Strabismus; Eyelids; Iatrogenic Disease
PubMed: 38306234
DOI: 10.3928/01913913-20231214-04 -
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 -
BMC Ophthalmology Jan 2021Superior rectus muscle transposition (SRT) is one of the proposed transposition techniques in the management of defective ocular abduction secondary to chronic sixth...
BACKGROUND
Superior rectus muscle transposition (SRT) is one of the proposed transposition techniques in the management of defective ocular abduction secondary to chronic sixth nerve palsy and esotropic Duane retraction syndrome (Eso-DRS). The aim of the current study is to report the outcomes of augmented SRT in treatment of Eso-DRS and chronic sixth nerve palsy.
METHODS
a retrospective review of medical records of patients with Eso-DRS and complete chronic sixth nerve palsy who were treated by augmented full tendon SRT combined with medial rectus recession (MRc) when intraoperative forced duction test yielded a significant contracture. Effect on primary position esotropia (ET), abnormal head posture (AHP), limitation of ocular ductions as well as complications were reported and analyzed.
RESULTS
a total of 21 patients were identified: 10 patients with 6th nerve palsy and 11 patients with Eso-DRS. In both groups, SRT was combined with ipsilateral MRc in 18 cases. ET, AHP and limited abduction were improved by means of 33.8PD, 26.5°, and 2.6 units in 6th nerve palsy group and by 31.1PD, 28.6°, and 2 units in Eso-DRS group respectively. Surgical success which was defined as within 10 PD of horizontal orthotropia and within 4 PD of vertical orthotropia was achieved in 15 cases (71.4%). Significant induced hypertropia of more than 4 PD was reported in 3 patients (30%) and in 2 patients (18%) in both groups, respectively.
CONCLUSION
augmented SRT with or without MRc is an effective tool for management of ET, AHP and limited abduction secondary to sixth nerve palsy and Eso-DRS. However, this form of augmented superior rectus muscle transposition could result in high rates of induced vertical deviation.
Topics: Abducens Nerve Diseases; Duane Retraction Syndrome; Esotropia; Eye Movements; Humans; Oculomotor Muscles; Ophthalmologic Surgical Procedures; Retrospective Studies; Vision, Binocular
PubMed: 33472581
DOI: 10.1186/s12886-020-01779-1