900 results match your criteria Duane Syndrome

Coexistence of Idiopathic Intracranial Hypertension with Unilateral Duane Retraction Syndrome Type 1 in an Adult Female.

Case Rep Ophthalmol 2022 Jan-Apr;13(1):292-296. Epub 2022 Apr 22.

Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia.

Idiopathic intracranial hypertension (IIH) is a poorly understood condition, and its presentation can coexist with other diseases. Simultaneous IIH and Duane retraction syndrome (DRS) type 1 have never been reported to coexist in an adult patient. Herein, we report a 32-year-old obese female with a history of chronic renal failure who had a renal transplant rejection 6 years prior to presentation and was treated with oral steroids and immunosuppressive medications. Read More

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Duane Retraction Syndrome: The Role of Botulinum Toxin A Injection in Adults and Its Impact on Quality of Life in an Indian Population.

J Pediatr Ophthalmol Strabismus 2022 Apr 21:1-6. Epub 2022 Apr 21.

Purpose: To evaluate the role of botulinum toxin A in the treatment of adults with Duane retraction syndrome and its impact on quality of life.

Methods: A total of 25 adults with unilateral Duane retraction syndrome were selected for this interventional case series. Botulinum toxin was injected in the appropriate horizontal recti. Read More

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A three-dimensional analysis of the development of cranial nerves in human embryos.

Clin Anat 2022 Jul 5;35(5):666-672. Epub 2022 May 5.

Amsterdam Reproduction and Development, Amsterdam, The Netherlands.

To increase our understanding of the etiology of specific neurological disorders (e.g., Duane syndrome, glossoptosis in Pierre Robin sequence), proper knowledge of anatomy and embryology of cranial nerves is necessary. Read More

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Lateral rectus recession for consecutive exotropia in esotropic Duane syndrome: A case report.

Saudi J Ophthalmol 2021 Apr-Jun;35(2):140-142. Epub 2022 Feb 18.

College of Medical, King Saud University Hospital, Riyadh, Saudi Arabia.

Consecutive exotropia is considered as a rare complication after medial rectus recession that is performed for cases of esotropic Duane syndrome. Here, we present a case of 5-year-old female initially presented with the limitation of abduction, narrowing of the palpebral fissure, and globe retraction of the left eye along with a mild left face turn. She was diagnosed with Duane syndrome Type 1. Read More

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February 2022

A mutation of in a Chinese family with Okihiro syndrome.

Mol Med Rep 2022 04 18;25(4). Epub 2022 Feb 18.

Department of Otolaryngology, Head and Neck Surgery, Kunming Children's Hospital, Kunming, Yunnan 650228, P.R. China.

Okihiro syndrome is an autosomal dominant condition characterized by Duane anomaly and radial ray defects. The present study aimed to analyze the clinical manifestations of a patient with Okihiro syndrome and perform genetic testing on the proband and his family to determine the biological pathogenesis. Clinical data were collected from the proband and his family and genomic DNA was extracted from peripheral blood. Read More

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Ocular Abnormal Head Posture: A Literature Review.

J Curr Ophthalmol 2021 Oct-Dec;33(4):379-387. Epub 2022 Jan 6.

Department of Oral and Maxillofacial Surgery, School of Dentistry, Isfahan (Khorasgan) Branch, Islamic Azad University, Isfahan, Iran.

Purpose: To provide a comprehensive review on different characteristics of abnormal head postures (AHPs) due to different ocular causes, its measurement, and its effect on facial appearance.

Methods: In this review article, PubMed, Scopus, and Google Scholar search engines were searched for the scientific articles and books published between 1975 and September 2020 based on the keywords of this article. The selected articles were collected, summarized, classified, evaluated, and finally concluded. Read More

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January 2022

Superior Rectus Transposition in the Management of Duane Retraction Syndrome: Current Insights.

Clin Ophthalmol 2022 26;16:201-212. Epub 2022 Jan 26.

Jasti V Ramanamma Children's Eye Care Centre, Child Sight Institute, L V Prasad Eye Institute, Hyderabad, India.

Various surgical approaches have been described for the management of Duane retraction syndrome (DRS), a type of congenital cranial dysinnervation disorder (CCDD), the goals of which include correcting the primary position deviation and abnormal head posture (AHP), minimizing globe retraction and overshoots and improving the ocular rotations. Vertical rectus transposition (VRT) is one such technique, found more effective in improving abduction and thereby expanding the field of binocular vision, as compared to horizontal muscle surgery. VRT, however, is associated with the risk of inducing vertical deviations and also poses a risk for development of anterior segment ischemia. Read More

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January 2022

Success rates of botulinum toxin in different types of strabismus and dose effect.

Can J Ophthalmol 2022 Jan 14. Epub 2022 Jan 14.

Department of Ophthalmology, Ondokuz Mayis University Hospital, Samsun, Turkey.

Objective: To determine the effect of botulinum toxin in different types of strabismus and analyze its dose effect.

Design: This was an interventional clinical study performed in a tertiary care university hospital.

Methods: Eighty six patients treated with botulinum toxin for strabismus were included. Read More

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January 2022

Characteristics and long-term surgical outcomes of horizontal strabismus.

Int Ophthalmol 2022 May 3;42(5):1639-1649. Epub 2022 Jan 3.

Ophthalmology Department, American University of Beirut Medical Center, PO Box 110236, Beirut, Lebanon.

Purpose: Our aim was to report the characteristics and long-term surgical outcomes of three subgroups of horizontal strabismus in a single institution (divided by strabismus subtype) in a developing country and look into pre-operative factors predictive of surgical success.

Methods: Two hundred and forty-four complete charts of patients, divided into 152 esotropes (ET) and 92 exotropes (XT) who had undergone horizontal strabismus surgeries, were retrospectively reviewed. Charts of patients with muscle palsy, Duane syndrome and consecutive strabismus were excluded; 172 patients were included divided into partially accommodative ET, congenital ET and intermittent XT. Read More

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[Improvement of surgical treatment of Duane syndrome in children].

Vestn Oftalmol 2021 ;137(6):33-37

Tashkent Pediatric Medical Institute, Tashkent, Republic of Uzbekistan.

Purpose: To analyze the use of bifurcation of the lateral rectus muscle (LRM) in the surgical treatment of Duane syndrome (DS) in children.

Material And Methods: The analysis of surgical treatment involved 12 children with paralytic strabismus at the age of 8 to 17. The following research methods were conducted for all patients: the study of eye motility in different directions of gaze, the study of eyes position and the degree of deviation in different positions of gaze, the Bielschowsky test, the Park's three-step test, determination of the nature of torticollis, the forcing test - intraoperative forceps test, multislice computed tomography (MSCT) of the head and orbit, ultrasonography of the oculomotor muscles. Read More

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December 2021

Eye as the Legend of an Unknown Tale: Joubert Syndrome Masquerading as Duane Retraction Syndrome.

J Neuroophthalmol 2021 Dec 16. Epub 2021 Dec 16.

Departments of Neurology (RSS, SJ, RY) and Neuroimaging and Interventional Radiology (MDB), National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, India.

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December 2021

Expanding the Phenotype of the -Related Ciliopathy and Identification of Three Neurogenetic Disorders in a Single Family.

Genes (Basel) 2021 10 20;12(11). Epub 2021 Oct 20.

Department of Pediatrics and Adolescent Medicine, Division of Pediatric Pulmonology, Allergology and Endocrinology, Comprehensive Center for Pediatrics, Medical University of Vienna, 1090 Vienna, Austria.

Biallelic truncating variants result in cilia dysfunction and have been reported in four infants with Joubert syndrome and orofaciodigital syndrome type VI, respectively. We report here on three adult siblings, 18 to 40 years of age, homozygous for the known c.354_357delinsCACTC (p. Read More

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October 2021

Surgical Outcomes of Transposition Surgery for the Correction of Large-Angle Strabismus.

J Neuroophthalmol 2021 Dec;41(4):e806-e814

Roski Eye Institute (KKG, JL, BYX, VRP), University of Southern California, Los Angeles, California; Department of Ophthalmology (JL), University of California San Francisco, San Francisco, California; and Gavin Herbert Eye Institute (VRP), University of California, Irvine, Irvine, California.

Background: Many potential surgical options exist to address large-angle deviations and head turns that result from various forms of paralytic strabismus. Muscle transposition surgeries serve as suitable alternatives to simple resection-recessions. Here, we report outcomes of augmented Hummelsheim and X-type transpositions for the correction of large-angle strabismus and provide insights for surgical planning. Read More

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December 2021

Efficacy of the mRNA-1273 SARS-CoV-2 Vaccine at Completion of Blinded Phase.

N Engl J Med 2021 Nov 22;385(19):1774-1785. Epub 2021 Sep 22.

From Baylor College of Medicine, Houston (H.M.E.S.), and Javara, The Woodlands (C.K.) - both in Texas; Brigham and Women's Hospital, Boston (L.R.B.), and Moderna, Cambridge (A.A., H.C., W.D., S.H., B.L., D.M., R.P., F.S., J.E.T., H.Z., J.M.) - both in Massachusetts; Meridian Clinical Research, Baton Rouge, LA (B.E., F.E.); University of Miami, Miami (S.D.-L.), and DeLand Clinical Research Unit, DeLand (B.R.) - both in Florida; University of Pittsburgh School of Medicine, Pittsburgh (J.M.M.); Emory University School of Medicine, Atlanta (E.J.A.); University of Colorado School of Medicine, Aurora (T.B.C.); University of California, Los Angeles (J.C.), and Wake Research-Medical Center for Clinical Research, San Diego (L.H.-C.) - both in California; Kaiser Permanente Washington Health Research Institute (L.A.J.), and Fred Hutchinson Cancer Research Center (L.C., P.G., H.J.) - both in Seattle; University of Cincinnati, Cincinnati (C.J.F.); Henry Ford Health System, Detroit (M.Z.); Vitalink Research, Greenville, SC (G.F.); Clinical Research Center of Nevada, Wake Research, Las Vegas (M.L.); and the University of Maryland, College Park (K.M.N.), and the Vaccine Research Center (J.R.M., J.E.L., B.S.G.), National Institute of Allergy and Infectious Diseases (D.F., M.M., L.P.), National Institutes of Health, Bethesda - both in Maryland.

Background: At interim analysis in a phase 3, observer-blinded, placebo-controlled clinical trial, the mRNA-1273 vaccine showed 94.1% efficacy in preventing coronavirus disease 2019 (Covid-19). After emergency use of the vaccine was authorized, the protocol was amended to include an open-label phase. Read More

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November 2021

Vertical Tropia Following Horizontal Transposition Surgery.

A Thomas P Watts

Br Ir Orthopt J 2021 12;17(1):51-55. Epub 2021 Mar 12.

University Hospital of Wales, GB.

Aim: The aim of this study was to determine the prevalence of vertical tropia following horizontal transposition of both vertical rectus muscles (HToVR) in patients with Duane syndrome or sixth nerve palsy.

Methods: This retrospective study included patients with Duane syndrome or sixth nerve palsy who had undergone HToVR muscles. Data collected included: age, gender, diagnosis, laterality, pre-operative angle of deviation, type of surgery and post-operative angle of deviation at one week, three months and six months. Read More

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Duane Retraction Syndrome Type 1.

J Pediatr 2021 Oct 26;237:307. Epub 2021 Jun 26.

Department of Neonatology and Paediatrics, Rainbow Children's Hospital and BirthRight by Rainbow, Hebbal, Bengaluru, India.

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October 2021

The Rac-GAP alpha2-Chimaerin Signals via CRMP2 and Stathmins in the Development of the Ocular Motor System.

J Neurosci 2021 08 24;41(31):6652-6672. Epub 2021 Jun 24.

School of Life Sciences, University of Sussex, Brighton BN7 9QG, United Kingdom

A precise sequence of axon guidance events is required for the development of the ocular motor system. Three cranial nerves grow toward, and connect with, six extraocular muscles in a stereotyped pattern, to control eye movements. The signaling protein alpha2-chimaerin (α2-CHN) plays a pivotal role in the formation of the ocular motor system; mutations in , encoding α2-CHN, cause the human eye movement disorder Duane Retraction Syndrome (DRS). Read More

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Diplopia in Cases With Type 1 Duane Retraction Syndrome.

Cureus 2021 Jun 20;13(6):e15769. Epub 2021 Jun 20.

Ophthalmology, Trakya University, Edirne, TUR.

Objective In this study, we aimed to investigate the prevalence of diplopia in cases with type 1 Duane retraction syndrome (DRS). Materials and methods This study was a retrospective review of cases involving patients presenting diagnosed with DRS over a period of 24 years. Among these cases, 28 had type 1 DRS and fulfilled the inclusion criteria. Read More

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Cyclosporine A Treatment of Proteinuria in a New Case of MAFB-Associated Glomerulopathy without Extrarenal Involvement: A Case Report.

Nephron 2021 11;145(4):445-450. Epub 2021 May 11.

Department of Nephrology, Osaka University Graduate School of Medicine, Suita, Japan.

The MAFB gene encodes an important basic leucine zipper transcription factor that functions in glomerular podocytes, macrophages, and osteoclasts. Recently, MAFB was identified as the gene that was responsible for causing nephropathy with focal segmental glomerulosclerosis (FSGS) with multicentric carpotarsal osteolysis (MCTO) or Duane retraction syndrome (DRS). Here, we describe a patient with nephropathy associated with FSGS who exhibited a novel stop-gain variant in the MAFB gene (NM_005461:c. Read More

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December 2021

A 7-year old female with arthrogryposis multiplex congenita, Duane retraction syndrome, and Marcus Gunn phenomenon due to a ZC4H2 gene mutation: a clinical presentation of the Wieacker-Wolff syndrome.

Ophthalmic Genet 2021 10 5;42(5):612-614. Epub 2021 May 5.

Ophthalmology, Boston Children's Hospital, Boston, Massachusetts, USA.

: Duane retraction syndrome and arthrogryposis multiplex congenita have an incidence of approximately 1:1500-1:3000 live births. However, the association of these two entities with a Marcus-Gunn might be a rare and, until now, under-recognized clinical presentation of the Wieacker-Wolff Syndrome.: We report a 7-year-old female with dysmorphic features, global developmental delay, arthrogryposis multiplex congenita (AMC), Duane retraction syndrome (DRS), and unilateral Marcus Gunn jaw winking. Read More

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October 2021

The Spectrum of Underlying Diseases in Children with Torticollis.

Turk Neurosurg 2021 ;31(3):389-398

Erciyes University, Faculty of Medicine, Department of Neurosurgery, Kayseri, Turkey.

Aim: To investigate the underlying conditions in children with torticollis.

Material And Methods: Between May 2016 and December 2019, 24 patients (10 girls and 14 boys; mean age, 8 years) presenting with twisted neck, neck pain, weakness of extremities, imbalance, and gait disorder were evaluated retrospectively.

Results: Five of the patients had cranial pathologies (cerebellar anaplastic ependymoma and medulloblastoma, brain stem glioma, atypical teratoid rhabdoid tumor, and acute disseminated encephalomyelitis), and five of the patients had spinal pathologies (idiopathic intervertebral disc calcification, vertebral hemangiomatosis, compression fracture, multiple hereditary exostoses, and Langerhans cell histiocytosis at C4). Read More

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Novel finding of atrophic extraocular muscles in Loeys-Dietz syndrome: a case report and review of the literature.

J AAPOS 2021 04 3;25(2):119-121. Epub 2021 Mar 3.

Department of Ophthalmology, Baylor College of Medicine, Houston, Texas; Division of Ophthalmology, Department of Surgery, Texas Children's Hospital, Houston. Electronic address:

A 19-year-old man with Loeys-Dietz syndrome and right exotropic Duane syndrome after bilateral lateral rectus recessions at age 22 months presented with recurrent progressive exotropia 17 years after his initial surgery. Surgical correction was aborted intraoperatively when extreme atrophy of the right medial rectus, lateral rectus, and superior rectus muscles was observed, later corroborated by orbital magnetic resonance imaging. Read More

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CHN1 and duane retraction syndrome: Expanding the phenotype to cranial nerves development disease.

Eur J Med Genet 2021 Apr 2;64(4):104188. Epub 2021 Mar 2.

Service de Génétique Médicale, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, France; MRGM, Maladies Rares: Génétique et Métabolisme, lNSERM U1211, Université de Bordeaux, Bordeaux, France.

Duane retraction syndrome is a congenital eye movement disorder characterized by a failure of abducens nerve to develop normally, resulting in restriction or absence of abduction, adduction, or both, and narrowing of the palpebral fissure and retraction of the globe on attempted adduction. There is a genetic heterogeneity in Duane retraction syndrome (DURS). DURS maps to chromosome 8q13 in some patients, and pathogenic variants in CHN1 and MAFB genes are known to lead to DURS. Read More

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Superior Rectus Transposition and Medial Rectus Recession for Treatment of Duane Retraction Syndrome and Sixth Nerve Palsy.

J Binocul Vis Ocul Motil 2021 Apr-Jun;71(2):45-49. Epub 2021 Mar 5.

Eye Research Center, Farabi Eye Hospital, Tehran University of Medical Sciences, Tehran, Iran.

: To evaluate the outcome of augmented superior rectus transposition (SRT) with medial rectus (MR) recession in patients with Duane Retraction Syndrome (DRS) and sixth nerve palsy.: Twenty four patients (16 DRS and 8 sixth nerve palsy) that underwent the procedure were included. The superior rectus muscle was secured, detached, and re-attached to the sclera along the spiral of Tilaux, adjacent to lateral rectus insertion. Read More

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October 2021

Pseudo-Duane retraction syndrome after orbital myositis.

J AAPOS 2021 04 27;25(2):121-123. Epub 2021 Feb 27.

Department of Ophthalmology, Boston Children's Hospital, Boston, Massachusetts; Department of Ophthalmology, Massachusetts Eye & Ear, Boston, Massachusetts; Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts; Picower Institute for Learning and Memory, Department of Brain and Cognitive Sciences, Massachusetts Institute of Technology, Cambridge, Massachusetts. Electronic address:

Orbital myositis is a rare, commonly idiopathic, inflammatory condition that affects one or more extraocular muscles. We present a case of unilateral orbital myositis affecting the lateral rectus muscle presenting with gaze-evoked amaurosis, pain, and diplopia, with restrictive limitation of adduction. With improvement in adduction after initiating treatment, we noted narrowing of the palpebral fissure on attempted adduction, mimicking Duane retraction syndrome (DRS). Read More

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Biallelic CDK9 variants as a cause of a new multiple-malformation syndrome with retinal dystrophy mimicking the CHARGE syndrome.

J Hum Genet 2021 Oct 27;66(10):1021-1027. Epub 2021 Feb 27.

Department of Ophthalmology and Laboratory for Visual Science, National Center for Child Health and Development, Tokyo, Japan.

CDK9 has been considered a candidate gene involved in the CHARGE-like syndrome in a pair of cousins. We report an 8-year-old boy with a strikingly similar phenotype including facial asymmetry, microtia with preauricular tags and bilateral hearing loss, cleft lip and palate, cardiac dysrhythmia, and undescended testes. Joint contracture, no finger flexion creases, and large halluces were the same as those of a previously reported patient with homozygous CDK9 variants. Read More

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October 2021