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Semin Ophthalmol 2018 Dec 5:1-7. Epub 2018 Dec 5.

a Department of Ophthalmology , Inonu University School of Medicine , Malatya , Turkey.

Purpose: To describe the clinical features of patients with Duane retraction syndrome (DRS) and evaluate the outcomes of surgical approaches based on the characteristics of each patient.

Methods: The records of 38 Caucasian subjects with DRS were retrospectively reviewed. The patients were classified as type I, II, or III based on the Huber Classification. Read More

Int Ophthalmol 2018 Nov 26. Epub 2018 Nov 26.

Department of Medical Biology and Genetics, Faculty of Medicine, Ondokuz Mayis University, Samsun, Turkey.

Purpose: Duane retraction syndrome (DS) is a rare congenital strabismus with genetic heterogeneity. The genetic causes of DS are not always of monogenic origin; various chromosomal copy number variations (CNVs) have also been reported. The objective of our study was to characterize the CNVs, including gains and losses detected by high-resolution chromosomal microarray in patients with DS. Read More

J AAPOS 2018 Nov 1. Epub 2018 Nov 1.

Stein Eye Institute, Department of Ophthalmology, University of California Los Angeles, Los Angeles, California.

Surgery for esotropic Duane syndrome may result in overcorrections. Managing these overcorrections can be challenging. We describe the most common over-correction scenarios and recommendations for their surgical management. Read More

Neurol Sci 2018 Oct 30. Epub 2018 Oct 30.

Department of Ophthalmology, Seoul National University College of Medicine, Seoul National University Bundang Hospital, 82, Gumi-ro 173 Beon-gil, Bundang-gu, Seongnam, Gyeonggi-do, 13620, South Korea.

J Binocul Vis Ocul Motil 2018 Oct-Dec;68(4):154-155. Epub 2018 Oct 26.

a Jules Stein Eye Institute and Department of Ophthalmology , University of California , Los Angeles , California.

Background: Recently, the superior rectus transposition has been widely adopted for the treatment of complete abducens palsy and Duane syndrome. This procedure is useful in that there is a decreased risk of anterior segment ischemia compared to complete vertical rectus transposition, possibly decreased incidence of postoperative-induced vertical deviations than complete vertical rectus transposition, and improvement in abduction compared to simple medial rectus recession. One difficulty with this procedure is the lack of adjustability in most patients. Read More

J Hand Surg Eur Vol 2019 Jan 18;44(1):88-95. Epub 2018 Oct 18.

School of Medicine, Medical Sciences and Nutrition, University of Aberdeen, Aberdeen, UK.

Thalidomide remains notorious as a result of the damage it caused to children born to mothers who used it to treat morning sickness between 1957 and 1961. The re-emergence of the drug to treat a range of conditions including erythema nodosum leprosum (a complication of leprosy) has led to a new generation of thalidomide damaged children being born in Brazil. Although thalidomide affects most of the developing tissues and organs of the body, the damage to the limbs is striking. Read More

Medicine (Baltimore) 2018 Sep;97(36):e12124

Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

Blepharoptosis (ptosis) is a common but often overlooked sign that may serve as a sign/manifestation of other conditions, ranging from a mild and purely cosmetic presentation to a severe and occasionally progressive disorder. Ptosis may show an acute onset or may manifest as a chronic disorder. Its presentation may vary: unilateral versus bilateral, progressive versus non-progressive, isolated versus complex which occurs in association with other symptoms, and congenital versus acquired (often concomitant with neuromuscular disorders). Read More

Am J Ophthalmol 2018 Nov 8;195:171-175. Epub 2018 Aug 8.

Department of Ophthalmology, Boston Children's Hospital, Boston, Massachusetts, USA; Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts, USA. Electronic address:

Purpose: To describe a phenomenon, depression in attempted abduction, not previously recognized as a feature of Duane syndrome (DS).

Design: Retrospective, observational case series.

Methods: Setting: Institutional practice. Read More

Cell Rep 2018 Aug;24(6):1562-1572

Division of Molecular and Developmental Biology, National Institute of Genetics, 1111 Yata, Mishima, Shizuoka 411-8540, Japan; Department of Genetics, Graduate University for Advanced Studies (SOKENDAI), 1111 Yata, Mishima, Shizuoka 411-8540, Japan. Electronic address:

Cranial motor nuclei in the brainstem innervate diverse types of head and neck muscles. Failure in establishing these neuromuscular connections causes congenital cranial dysinnervation disorders (CCDDs) characterized by abnormal craniofacial movements. However, mechanisms that link cranial motor nuclei to target muscles are poorly understood at the molecular level. Read More

Elife 2018 08 1;7. Epub 2018 Aug 1.

Department of Cancer Biology, Dana-Farber Cancer Institute, Boston, United States.

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. Read More

Graefes Arch Clin Exp Ophthalmol 2018 Dec 30;256(12):2467-2471. Epub 2018 Jul 30.

Department of Ophthalmology, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-ro, Gangnam-gu, Seoul, 06351, South Korea.

Background: We questioned how to treat for intermittent exotropia in type 1 Duane's retraction syndrome (DRS). To avoid secondary abduction deficit and late overcorrection on the affected eye following ipsilateral lateral rectus (LR) recession, we performed less correction of the lateral rectus (LR) recession to correct exodeviation and anomalous head position (AHP). We report the surgical outcomes of LR recession in patients with unilateral type 1 DRS. Read More

N Engl J Med 2018 Jul;379(4):315-326

From the Division of Trauma and General Surgery, Department of Surgery (J.L.S., J.B.B., L.H.A., B.S.Z., M.D.N., M.R.R., R.M.F., T.R.B., A.B.P., M.S.Z.), and the Departments of Emergency Medicine (F.X.G., C.W.C., D.M.Y.) and Critical Care Medicine (B.J.E.-Y., P.W.A.), University of Pittsburgh Medical Center, and the Department of Pathology, University of Pittsburgh and Institute for Transfusion Medicine (M.H.Y., D.J.T.), Pittsburgh, and University of Pittsburgh Medical Center, Altoona Hospital, Altoona (A.T.P.) - all in Pennsylvania; the Department of Surgery, University of Tennessee Health Science Center, Knoxville (B.J.D.), and the Department of Surgery, Vanderbilt University Medical Center, Nashville (R.S.M.) - both in Tennessee; the Department of Surgery, University of Louisville, Louisville, KY (B.G.H.); MetroHealth Medical Center, Case Western Reserve University, Cleveland (J.A.C.); and the Department of Surgery, University of Texas Southwestern, Parkland Memorial Hospital, Dallas (H.A.P.) and Texas Health Harris Methodist Hospital (W.R.W.) and the John Peter Smith Health Network (T.M.D.), Fort Worth - all in Texas.

Background: After a person has been injured, prehospital administration of plasma in addition to the initiation of standard resuscitation procedures in the prehospital environment may reduce the risk of downstream complications from hemorrhage and shock. Data from large clinical trials are lacking to show either the efficacy or the risks associated with plasma transfusion in the prehospital setting.

Methods: To determine the efficacy and safety of prehospital administration of thawed plasma in injured patients who are at risk for hemorrhagic shock, we conducted a pragmatic, multicenter, cluster-randomized, phase 3 superiority trial that compared the administration of thawed plasma with standard-care resuscitation during air medical transport. Read More

Kidney Int 2018 Aug 18;94(2):396-407. Epub 2018 May 18.

Division of Nephrology, Department of Medicine, Showa University Fujigaoka Hospital, Fujigaoka, Japan.

Focal segmental glomerulosclerosis (FSGS) is a leading cause of end-stage renal disease in children and adults. Genetic factors significantly contribute to early-onset FSGS, but the etiologies of most adult cases remain unknown. Genetic studies of monogenic syndromic FSGS exhibiting extra-renal manifestations have uncovered an unexpected biological role for genes in the development of both podocytes and other cellular lineages. Read More

World Neurosurg 2018 Aug 17;116:25-28. Epub 2018 May 17.

Department of Pediatric Neurosurgery, Seattle Children's Hospital, Seattle, Washington, USA; Ronald Reagan UCLA Medical Center, Santa Monica, California, USA.

Background: Duane syndrome is a congenital eye movement disorder characterized by congenital malformation of the abducens nucleus. Thrombogenic conditions during development may lead to vascular anomalies in Duane syndrome; however, the presence of a giant aneurysm in this patient population is a rarely documented phenomenon.

Case Description: We reported a case of a large cerebral aneurysm in a pediatric patient with Duane syndrome and performed a review of the literature to identify other potential cases and associations. Read More

Case Rep Ophthalmol 2018 Jan-Apr;9(1):96-101. Epub 2018 Feb 1.

Ivey Eye Institute, University of Western Ontario, London, Ontario, Canada.

Congenital cranial dysinnervation disorders, also known as CCDDs, are characterized by aberrant innervation to extraocular and facial muscles resulting in unusual forms of incomitant strabismus. Anomalous innervation to extraocular muscles can result in a wide variety of phenotypes causing various clinical conditions such as Duane syndrome, congenital fibrosis of the extraocular muscles, and Möbius syndrome. We report a case of bilateral dysinnervation disorder causing atypical ocular movements in both eyes as the patient changes fixation from one eye to the other and from right gaze to left gaze that fits with the wider diagnosis of CCDDs. Read More

Graefes Arch Clin Exp Ophthalmol 2018 May 3;256(5):983-987. Epub 2018 Jan 3.

Eye Research Center, Farabi Eye Hospital, Tehran University of Medical Sciences, South Kargar, Qazvin SQ, Tehran, 13352, Iran.

Purpose: Superior rectus transposition (SRT) with medial rectus recession has been used for the treatment of sixth nerve palsy and esotropic Duane retraction syndrome (DRS). The purpose of this study was to compare the results of augmented SRT (with scleral fixation) without medial rectus recession in DRS and sixth nerve palsy.

Methods: Patients with unilateral esotropic DRS (DRS group) and sixth nerve palsy were included in this prospective, comparative study and underwent SRT. Read More

J AAPOS 2018 Feb 30;22(1):2.e1-2.e5. Epub 2017 Dec 30.

Pediatric Ophthalmology and Strabismus Services, Dr R P Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi. Electronic address:

Background: Pediatric ophthalmologists are increasingly expected to promote, preserve, and restore binocular vision.

Methods: Clinical studies on restoring alignment and stereopsis in the management of amblyopia, esotropia, exotropia, and complex strabismus are reviewed from the perspective of the author's published work and personal experiences.

Results: Treatment of amblyopia by means of optical rehabilitation, occlusion, or penalization has been reinforced by medical treatment and perceptual training with monocular or binocular video games. Read More

J Curr Ophthalmol 2017 Dec 11;29(4):248-257. Epub 2017 Sep 11.

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

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". Read More

J AAPOS 2018 Feb 1;22(1):12-16.e1. Epub 2017 Dec 1.

Pediatric Ophthalmology and Strabismus Services, Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India.

Purpose: To evaluate surgical outcome of superior rectus transposition (SRT) in esotropic Duane syndrome (DS) and abducens nerve palsy.

Methods: Retrospective medical record analysis of all patients with esotropic DS and abducens nerve palsy treated with SRT at our center with minimum follow-up of 6 months. Primary outcome measures were esotropia in primary position and abduction limitation. Read More

J Pediatr Ophthalmol Strabismus 2017 Nov 17;54:e81-e82. Epub 2017 Nov 17.

Bilateral superior rectus transposition with bilateral medial rectus recession has been described successfully for treatment of Duane's syndrome but never for Möbius syndrome. The authors describe a child with Möbius syndrome who presented with large bilateral abduction deficits and esotropia. This surgical treatment resulted in marked improvement of said deficits. Read More

Strabismus 2017 12 14;25(4):191-194. Epub 2017 Nov 14.

b BPS GMC for Women , Khanpur Kalan , Haryana , India.

Anomalous orbital structures are suspected in restrictive strabismus with features of severe globe retractions, overshoots, or synergistic movements. We report a case of suspected Duane syndrome that was found to have an anomalous band beneath the lateral rectus muscle. Such abnormal structures are rare, but it is important to identify and manage them to optimize outcomes. Read More

Clin Ophthalmol 2017 30;11:1917-1930. Epub 2017 Oct 30.

Pediatric Ophthalmology and Strabismus Services, Child Sight Institute, Jasti V Ramannama Children's Eye Care Center, KAR Campus, Hyderabad, India.

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. Read More

J AAPOS 2017 Dec 28;21(6):511-512. Epub 2017 Oct 28.

Eye Institute, Cleveland Clinic Abu Dhabi, Abu Dhabi, United Arab Emirates.

Congenital cranial dysinnervation disorders are developmental abnormalities of cranial nerves that often include abnormal synkinesis. Among the most common ophthalmic congenital cranial dysinnervation disorders are Duane retraction syndrome and the Marcus-Gunn jaw-winking phenomenon. This report documents gustatory lid retraction as an unusual congenital cranial dysinnervation. Read More

Biochem Biophys Res Commun 2017 12 16;494(3-4):504-510. Epub 2017 Oct 16.

W. M. Keck Center for Collaborative Neuroscience and Department of Cell Biology and Neuroscience, Rutgers University, 604 Allison Road, Piscataway, NJ 08845, USA; Center for Neuroscience, Shantou University Medical College, 22 Xin Ling Road, Shantou, Guangdong 515041, China. Electronic address:

Therapeutic intervention is an important need in ameliorating the severe consequences of Rett Syndrome (RTT), a neurological disorder caused by mutations in the X-linked gene methyl-CpG-binding protein-2 (MeCP2). Following previously observed morphological defects in induced pluripotent stem cell (iPSC)-derived neurons obtained from female RTT patients, we hypothesized that transfection with the L1 cell adhesion molecule (L1) could contribute to normalizing a pathological male cell system bearing a nonsense mutation of MeCP2. We found a decreased expression of L1 in RTT iPSCs-derived neural precursor cells (RTT NPCs) and decreased neuritogenesis. Read More

Indian J Ophthalmol 2017 Oct;65(10):1056-1057

Department of Ophthalmology, Jawaharlal Postgraduate Medical Education and Research, Puducherry, India.

Congenital abduction deficit is most likely due to Duane's retraction syndrome as congenital abducens nerve palsy is very rare. We report two cases of infantile abduction deficit due to sixth nerve palsy associated with other anomalies to highlight the importance of including neuroimaging in the evaluation of an infant presenting with a limitation of abduction. Read More

J AAPOS 2017 Dec 13;21(6):472-475.e2. Epub 2017 Oct 13.

Department of Ophthalmology, Ege University Faculty of Medicine, Izmir, Turkey.

Purpose: To investigate CHN1 (chimerin 1) gene mutations in patients with isolated nonsyndromic Duane syndrome and accompanying positive familial history, bilaterality, or various systemic disorders.

Methods: Patients with Duane retraction syndrome (DRS) and a positive family history of congenital ocular motility disturbance or bilateral involvement or accompanying any congenital disorder(s) seen consecutively at a single center from 2013 to 2016 were enrolled. All subjects underwent full ophthalmologic examination, including refraction, best-corrected visual acuity, ocular alignment and motility, globe retraction, and biomicroscopic or fundus evaluation. Read More

Taiwan J Ophthalmol 2017 Jan-Mar;7(1):34-37

Department of Ophthalmology, Pediatric Ophthalmology and Strabismus Service, Kaohsiung Veterans General Hospital, Kaohsiung, Taiwan.

Purpose: To report the surgical effect in upshoot of Duane retraction syndrome (DRS) with corecession of horizontal rectus muscles with or without Y-splitting.

Patients And Methods: A retrospective chart review of six patients of DRS received muscle surgeries for upshoot in adducted position was performed.

Results: From 1994 to 2010, six Duane patients received muscle surgeries for upshoots of lesion eye in adduction. Read More

Taiwan J Ophthalmol 2017 Jan-Mar;7(1):3-11

Department of Ophthalmology, Adnan Menderes University Medical School, Aydın, Turkey.

Duane syndrome (DS) is a common form of congenital cranial dysinnervation disorders. The ocular motility pattern lies in a wide clinical spectrum, and the choice of treatment must be individualized depending on the severity of the clinical findings. There is no perfect method of treatment and no real "cure" in DS. Read More

Hum Mol Genet 2017 10;26(20):4055-4066

Institute of Human Genetics, University Hospital Cologne, 50931 Cologne, Germany.

Congenital cranial dysinnervation disorders (CCDDs) comprise a heterogeneous spectrum of diseases characterized by congenital, non-progressive impairment of eye, eyelid and/or facial movements including Möbius syndrome, Duane retraction syndrome, congenital ptosis, and congenital fibrosis of the extraocular muscles. Over the last 20 years, several CCDDs have been identified as neurodevelopmental disorders that are caused by mutations of genes involved in brain and cranial nerve development, e.g. Read More

J Pediatr Ophthalmol Strabismus 2018 Jan 9;55(1):47-52. Epub 2017 Oct 9.

Purpose: To evaluate the surgical results of asymmetric bilateral lateral rectus recession in exotropic Duane retraction syndrome with abnormal face turn toward the opposite side according to secondary deviation measurements.

Methods: Retrospective chart review.

Results: Seven cases of unilateral exotropic Duane retraction syndrome were reviewed. Read More

Turk J Ophthalmol 2017 Aug 15;47(4):211-215. Epub 2017 Aug 15.

Private Practice, Ankara, Turkey.

Objectives: To determine the most common ocular causes and types of abnormal head position (AHP) and describe their clinical features.

Materials And Methods: Patients with AHP who had been followed in the strabismus unit were retrospectively reviewed. Demographic features and orthoptic characteristics were recorded. Read More

Int J Environ Res Public Health 2017 08 5;14(8). Epub 2017 Aug 5.

Department of Nutrition and Food Science, University of Maryland, College Park, MD 20740, USA.

The Central and South American populations are growing rapidly in the US; however, there is a paucity of information about their health status. : we estimated the prevalence of metabolic syndrome (MetS) and its individual components from two cohorts of Central and South Americans. : This cross-sectional, medical record extraction survey sampled 1641 adults from a Washington, D. Read More

J Nutr Metab 2017 4;2017:9531964. Epub 2017 Jul 4.

Department of Family Science, Georgetown University, Washington, DC 20007, USA.

The objective of this study was to estimate the prevalence of Metabolic Syndrome (MetS) and its risk components and then compare differences in the risk components among low-income, uninsured Central and South American recent immigrants to the USA. This cross-sectional survey sampled 1,042 adult patients from a medical clinic in metropolitan Washington, DC. The overall prevalence of the MetS was 26. Read More

Indian J Ophthalmol 2017 May;65(5):422-423

Department of Pediatric Ophthalmology, Sankara Nethralaya, Chennai, Tamil Nadu, India.

A 12-year-old girl presented with esotropia and face turn since birth. Ocular motility examination showed restricted abduction associated with down shoot and retraction on attempted abduction characteristic of inverse Duane's retraction syndrome. To the best of our knowledge, this is one of the very few reported cases of congenital inverse Duane's retraction syndrome. Read More

Korean J Ophthalmol 2017 Jun 12;31(3):183-193. Epub 2017 May 12.

Department of Ophthalmology, Seoul National University Bundang Hospital, Seoul National University College of Medicine, Seongnam, Korea.

Congenital cranial dysinnervation disorders are a group of diseases caused by abnormal development of cranial nerve nuclei or their axonal connections, resulting in aberrant innervation of the ocular and facial musculature. Its diagnosis could be facilitated by the development of high resolution thin-section magnetic resonance imaging. The purpose of this review is to describe the method to visualize cranial nerves III, IV, and VI and to present the imaging findings of congenital cranial dysinnervation disorders including congenital oculomotor nerve palsy, congenital trochlear nerve palsy, Duane retraction syndrome, Möbius syndrome, congenital fibrosis of the extraocular muscles, synergistic divergence, and synergistic convergence. Read More

BMC Ophthalmol 2017 May 19;17(1):75. Epub 2017 May 19.

Department of Ophthalmology, Seoul National University College of Medicine, Seoul National University Bundang Hospital, 166, Gumiro, Bundang-gu, Seongnam, Gyeonggi-do, 463-707, Korea.

Background: Duane retraction syndrome (DRS) consists of abduction deficit, globe retraction and upshoots or downshoots with adduction. The abducens nerve on the affected side is absent in type 1 DRS. After bilateral medial rectus muscle recession in unilateral type 1 DRS may improve the abduction limitation, but still more than -3 limitation remains. Read More

Acta Neurol Belg 2017 12 18;117(4):941-942. Epub 2017 May 18.

Hôpital Erasme, Ophthalmology Department, Cliniques Universitaires de Bruxelles, Université Libre de Bruxelles, Route de Lennik 808, 1070, Brussels, Belgium.

J Fr Ophtalmol 2017 May 2;40(5):414-421. Epub 2017 May 2.

Service d'ophtalmologie, centre EVICR.net APOCHU 86, centre hospitalier universitaire Amiens-Picardie, site Sud, 80054 Amiens cedex 1, France; Université de Picardie-Jules-Verne, chemin du Thil, 80025 Amiens cedex 1, France.

Introduction: Congenital Brown syndrome and Stilling-Duane syndrome, two rare causes of strabismus are caused by fibrosis of one or more extraocular muscles. This series aims to report the clinical sensory and motor features of patients with Brown or Stilling-Duane syndrome.

Methods: Seventeen patients' records were retrospectively assessed for: the ocular deviation in primary position and in the 9 positions of gaze, head tilt, visual acuity and binocular vision. Read More

Hum Mol Genet 2017 08;26(R1):R37-R44

F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA 02115, USA.

Unraveling the genetics of the paralytic strabismus syndromes known as congenital cranial dysinnervation disorders (CCDDs) is both informing physicians and their patients and broadening our understanding of development of the ocular motor system. Genetic mutations underlying ocular CCDDs alter either motor neuron specification or motor nerve development, and highlight the importance of modulations of cell signaling, cytoskeletal transport, and microtubule dynamics for axon growth and guidance. Here we review recent advances in our understanding of two CCDDs, congenital fibrosis of the extraocular muscles (CFEOM) and Duane retraction syndrome (DRS), and discuss what they have taught us about mechanisms of axon guidance and selective vulnerability. Read More

Clin Ophthalmol 2017 12;11:697-700. Epub 2017 Apr 12.

Strabismus Department, Beyoglu Eye Training and Research Hospital, Istanbul, Turkey.

Purpose: To report the results of using prismatic glasses for Duane retraction syndrome (DRS).

Methods: Data were obtained from the records of patients who were evaluated during the year 2000 in the Strabismus Unit of the Beyoglu Eye Training and Research Hospital. The average follow-up was 12. Read More

J Curr Ophthalmol 2017 Mar 12;29(1):50-53. Epub 2016 Nov 12.

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

Purpose: To evaluate the efficacy of botulinum toxin injection in the patients with type 1 Duane syndrome and identify the predictive factors for success.

Methods: Sixteen patients with esotropic type 1 Duane syndrome without history of ocular surgery were selected for this interventional case series. The botulinum toxin was injected in the medial rectus of all patients. Read More

J Clin Invest 2017 May 27;127(5):1664-1682. Epub 2017 Mar 27.

Duane retraction syndrome (DRS) is the most common form of congenital paralytic strabismus in humans and can result from α2-chimaerin (CHN1) missense mutations. We report a knockin α2-chimaerin mouse (Chn1KI/KI) that models DRS. Whole embryo imaging of Chn1KI/KI mice revealed stalled abducens nerve growth and selective trochlear and first cervical spinal nerve guidance abnormalities. Read More

Indian J Ophthalmol 2017 Feb;65(2):155-159

Department of Radiodiagnosis, Dr. Rajendra Prasad Centre for Ophthalmic Sciences, New Delhi,, India.

Purpose: High-resolution magnetic resonance imaging (MRI) of intracranial parts of sixth nerve and seventh nerve and the extraocular muscles (EOMs) in orbit to correlate the clinical characteristics in patients with two special forms of strabismus in congenital cranial dysinnervation disorders which are Duane's retraction syndrome (DRS) and Mobius syndrome.

Materials And Methods: Morphological analysis by 3T MRI of orbit (using surface coils) and brain (using 32 channel head coil) was performed on 6 patients with clinical DRS (1 bilateral), 2 cases with Mobius syndrome, and 1 case with congenital sixth nerve palsy. These were compared with findings in five controls. Read More

J Trauma Acute Care Surg 2017 04;82(4):742-749

From the Northwestern University Feinberg School of Medicine (L.T.), Chicago, Illinois; Parkland Health and Hospital System (A.J., K.T., S.L.), Dallas, Texas; Baylor University Medical Center (A.H., P.P., M.S., T.D., G.O.O., L.B.P.), Dallas, Texas; John Peter Smith Health Network (R.R.G., T.M.D.), Fort Worth, Texas; and University of Texas Southwestern Medical Center (S.L.) Dallas, Texas.

Background: Delayed colonic anastomosis after damage control laparotomy (DCL) is an alternative to colostomies during a single laparotomy (SL) in high-risk patients. However, literature suggests increased colonic leak rates up to 27% with DCL, and various reported risk factors. We evaluated our regional experience to determine if delayed colonic anastomosis was associated with worse outcomes. Read More

Nepal J Ophthalmol 2016 01;8(15):74-77

Objective: To report that maximum weakening of lateral rectus muscles can improve significant exotropia in primary position, abnormal head posture, retraction, narrowing of palpebral fissure and downshoot in exotropic duannes retraction syndrome.

Case: A 12-year-old boy with exotropic Duane syndrome presented with downshoot and globe retraction in attempted adduction. Squint surgery was undertaken to correct the alignment and treat the secondary aberrant movements doing maximum weakening of the lateral rectus muscles by hang- back method. Read More

Can J Ophthalmol 2017 Feb 18;52(1):e31-e38. Epub 2016 Nov 18.

Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India.

Am J Med Genet A 2017 Mar 22;173(3):758-761. Epub 2017 Jan 22.

GeneDx, Gaithersburg, Maryland.

We report a patient with aplasia cutis congenita, Duane anomaly, hip dysplasia, and other anomalies who had a de novo missense variant in UBA2, which encodes for a protein involved in the SUMOylation pathway. It has previously been suggested that UBA2 haploinsufficiency underlies scalp defects in the 19q13.11 deletion syndrome. Read More

Neurol India 2017 Jan-Feb;65(1):221-222

Department of Neurology, Institute of Medical Science, Banaras Hindu University, Varanasi, Uttar Pradesh, India.

Turk J Pediatr 2017 ;59(6):684-687

Department of Ophthalmology, Hacettepe University Faculty of Medicine, Ankara, Turkey.

Erkan-Turan K, Taylan-Şekeroğlu H, Ağın A, Sanaç AŞ. Why and when to prefer botulinum toxin injection in childhood strabismus? Turk J Pediatr 2017; 59: 684-687. The aim of this study was to investigate the indications and outcomes of botulinum toxin injection in children with strabismus. Read More

Hippokratia 2017 Jan-Mar;21(1):49-51

Pathology Department of Stony Brook University, Stony Brook, New York.

Background: The inherited dysfibrinogenemias comprise rare congenital coagulation disorders which are clinically characterized by bleeding diathesis and, in occasional patients, by thrombotic tendency or combined bleeding-thrombotic events. In recent years, accumulating evidence suggested that fibrinogen has a critical role in the pathogenesis of neuroinflammatory disorders, including multiple sclerosis. We describe the presentation and long-term follow-up of a patient with inherited dysfibrinogenemia and concomitant clinical and laboratory evidence of demyelinating disease. Read More