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Clinical Ophthalmology (Auckland, N.Z.) 2017Duane retraction syndrome (DRS) is a congenital eye movement anomaly characterized by variable horizontal duction deficits, with narrowing of the palpebral fissure and... (Review)
Review
Duane retraction syndrome (DRS) is a congenital eye movement anomaly characterized by variable horizontal duction deficits, with narrowing of the palpebral fissure and globe retraction on attempted adduction, occasionally accompanied by upshoot or down-shoot. The etiopathogenesis of this condition can be explained by a spectrum of mechanical, innervational, neurologic and genetic abnormalities occurring independently or which influence each other giving rise to patterns of clinical presentations along with a complex set of ocular and systemic anomalies. Huber type I DRS is the most common form of DRS with an earlier presentation, while Huber type II is the least common presentation. Usually, patients with unilateral type I Duane syndrome have esotropia more frequently than exotropia, those with type II have exotropia and those with type III have esotropia and exotropia occurring equally common. Cases of bilateral DRS may have variable presentation depending upon the type of presentation in each eye. As regards its management, DRS classification based on primary position deviation as esotropic, exotropic or orthotropic is more relevant than Huber's classification before planning surgery. Surgical approach to these patients is challenging and must be individualized based on the amount of ocular deviation, abnormal head position, associated globe retraction and overshoots.
PubMed: 29133973
DOI: 10.2147/OPTH.S127481 -
Beyoglu Eye Journal 2019Duane retraction syndrome (DRS) is a congenital syndrome characterized by limitation in adduction and/or abduction eye movements and narrowing of the palpebral fissure...
OBJECTIVES
Duane retraction syndrome (DRS) is a congenital syndrome characterized by limitation in adduction and/or abduction eye movements and narrowing of the palpebral fissure in adduction, and may include globe retraction, upshoot or downshoot. Several systemic abnormalities, syndromes, and additional ocular findings can accompany DRS. This study is an evaluation of eye findings in patients with DRS.
METHODS
The records of 632 patients with DRS who were followed up between 1995 and 2016 were reviewed retrospectively. Patients with a follow-up of less than 6 months and patients with a history of eye/cranial trauma or injury were not included in the study. Before the patients were examined, a detailed anamnesis was obtained. Details of the medical records, including additional systemic diseases, were recorded.
RESULTS
The average of follow-up time was 45 months (min-max: 6-128 months). There were 255 male and 377 female patients. A total of 34 patients (5.4%) had additional ocular abnormalities. The most frequently observed ocular pathologies associated with DRS were congenital ptosis (n=6, 0.94%) and coloboma of the iris (n=4, 0.63%).
CONCLUSION
Most cases of DRS are observed as isolated. However, various ocular and systemic abnormalities and syndromes are associated with DRS. In particular, synkinetic syndromes may frequently be seen alongside DRS. Therefore, a complete ocular examination and anamnesis are crucial in cases with DRS.
PubMed: 35187428
DOI: 10.14744/bej.2019.36854 -
Oman Journal of Ophthalmology 2022
PubMed: 35937726
DOI: 10.4103/ojo.ojo_141_22 -
Oman Journal of Ophthalmology 2022To describe the clinical profile and magnetic resonance imaging findings of the brain in Duane retraction syndrome (DRS) and determine whether there is an association...
PURPOSE
To describe the clinical profile and magnetic resonance imaging findings of the brain in Duane retraction syndrome (DRS) and determine whether there is an association between clinical presentation and magnetic resonance imaging (MRI) brain characteristics.
MATERIALS AND METHODS
This was a cross-sectional study done at a tertiary care center in South India. We recruited and analyzed the clinical characteristics of 54 patients with DRS. MRI of the brain with fast imaging employing steady-state acquisition (FIESTA) was performed in 41 cases, and the cisternal segment of the sixth nerve was studied. Statistical analysis was done to determine any association between the radiological and clinical features.
RESULTS
Type 1 DRS was predominant, followed by Type 3 DRS and Type 2 DRS. 9.3% of cases were bilateral and 11.1% were familial. Orthotropia was most common, followed by esotropia and exotropia. The MRI brain showed the absence of the cisternal part of the sixth nerve on the affected side in 82% of Type 1 and 75% of Type 3 unilateral DRS. Both the abducens nerves were visualized in 19.5% of the patients with unilateral DRS. There was no statistically significant association between MRI brain findings and the clinical features.
CONCLUSIONS
MRI brain with FIESTA shows absent or hypoplastic sixth nerve in most cases of Type 1 and Type 3 DRS. However, around 20% of DRS cases may show the presence of the cisternal part of the sixth nerve. Hence, clinicians must be cautious when ruling out DRS on the basis of MRI brain findings. Although aplasia of the sixth nerve is the most frequent MRI finding, it may not be the sole etiologic factor.
PubMed: 35937749
DOI: 10.4103/ojo.ojo_133_21 -
Journal of Current Ophthalmology Dec 2017Surgical treatment in Duane retraction syndrome (DRS) can be very challenging even for the strabismus specialists because of a wide spectrum of diversity in clinical... (Review)
Review
PURPOSE
Surgical treatment in Duane retraction syndrome (DRS) can be very challenging even for the strabismus specialists because of a wide spectrum of diversity in clinical manifestations. The purpose of this article is to review these different surgical treatments.
METHODS
A comprehensive search was performed using PubMed database with the different keywords of "Duane retraction syndrome" and "surgery". Articles were selected from original English papers published since 2000. The full text of the selected articles was reviewed, and some articles were added based upon the references of the initial articles. We also provided selected case examples about some of these procedures.
RESULTS
125 articles were found in the initial search of which 37 articles were mostly related to the topic of this review. The number finally increased to 59 articles after considering the relative references of the initial articles. Different surgical methods performed on horizontal and vertical rectus muscles (recession, resection, transposition, Y splitting, periosteal fixation and posterior fixation suture) are reviewed. Careful selection of the surgical technique is important to achieve optimal results.
CONCLUSION
With accurate diagnosis of patients with DRS and proper surgical management, several adverse situations associated with this syndrome (amblyopia, abnormal head posture, upshoot, downshoot, and muscle underaction) can be prevented.
PubMed: 29270470
DOI: 10.1016/j.joco.2017.08.008 -
International Journal of Ophthalmology 2020To study the different treatment modalities needed in cases of Duane's Retraction Syndrome (DRS).
AIM
To study the different treatment modalities needed in cases of Duane's Retraction Syndrome (DRS).
METHODS
This prospective study undergone in more than four years, in Alexandria, included 238 patients of DRS, including type I, 162 patients (68%), type II 12 patients (5%) and type III 64 patients (27%). Surgery was indicated in 98 (41%) of them, to eliminate abnormal head posture, deviation of the eye in primary position, severe retraction of the globe or cosmetically unacceptable upshoot with attempted adduction.
RESULTS
Type I was the most common and type II was the least. Females were predominant in this study, constituting 125 patients (52.5%), and males 113 patients (47.5%). Left eye was more affected, in 110 patients (46.2%), right eye in 91 patients (38.2%) and bilateral in 37 patients (15.6%). Amblyopia was found in 27 patients (11.3%) and treated in 13 patients under 10 years of age, by patching the normal eye. Ninety-eight patients (41%) were operated, the results were most satisfactory and a nomogram is followed in the surgical plan.
CONCLUSION
The surgical management is needed in less than half of the cases and should be planned for every case individually according to the clinical findings, planned nomogram and modified intraoperatively according to the anatomical findings during surgery.
PubMed: 32090038
DOI: 10.18240/ijo.2020.02.12 -
ELife Aug 2018In historical attempts to treat morning sickness, use of the drug thalidomide led to the birth of thousands of children with severe birth defects. Despite their...
In historical attempts to treat morning sickness, use of the drug thalidomide led to the birth of thousands of children with severe birth defects. Despite their teratogenicity, thalidomide and related IMiD drugs are now a mainstay of cancer treatment; however, the molecular basis underlying the pleiotropic biology and characteristic birth defects remains unknown. Here we show that IMiDs disrupt a broad transcriptional network through induced degradation of several CH zinc finger transcription factors, including SALL4, a member of the -like family of developmental transcription factors. Strikingly, heterozygous loss of function mutations in result in a human developmental condition that phenocopies thalidomide-induced birth defects such as absence of thumbs, phocomelia, defects in ear and eye development, and congenital heart disease. We find that thalidomide induces degradation of SALL4 exclusively in humans, primates, and rabbits, but not in rodents or fish, providing a mechanistic link for the species-specific pathogenesis of thalidomide syndrome.
Topics: Abnormalities, Multiple; Adaptor Proteins, Signal Transducing; Amino Acid Sequence; CYS2-HIS2 Zinc Fingers; Duane Retraction Syndrome; Embryonic Stem Cells; HEK293 Cells; Heart Defects, Congenital; Heart Septal Defects, Atrial; Humans; Lower Extremity Deformities, Congenital; Peptide Hydrolases; Phenotype; Protein Binding; Proteolysis; Reproducibility of Results; Species Specificity; Substrate Specificity; Teratogens; Thalidomide; Transcription Factors; Ubiquitin-Protein Ligases; Upper Extremity Deformities, Congenital
PubMed: 30067223
DOI: 10.7554/eLife.38430