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Nephron 2021 May 11:1-6. 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

Ophthalmic Genet 2021 May 5:1-3. 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

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

J AAPOS 2021 Apr 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

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

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

J AAPOS 2021 Apr 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

J Hum Genet 2021 Feb 27. 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

J AAPOS 2021 02 17;25(1):14.e1-14.e6. Epub 2021 Feb 17.

State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China. Electronic address:

Purpose: To present the clinical features of 4 patients with Duane retraction syndrome characterized by synergistic divergence or convergence, abnormal vertical movements, and accessory fibrotic bands.

Methods: The medical records of 4 patients were reviewed retrospectively for the following clinical manifestations: visual acuity, refraction, ocular alignments, ocular motility, head position, magnetic resonance imaging, surgical techniques, and outcomes.

Results: All 4 cases were diagnosed as variants of Duane retraction syndrome. Read More

J AAPOS 2021 Apr 16;25(2):116-119. Epub 2021 Feb 16.

Academy of Eye Care Education, Department of Pediatric Ophthalmology, Strabismus, and Neuro-ophthalmology, Child Sight Institute and Jasti V. Ramanamma Children's Eye Care Centre, L V Prasad Eye Institute, KAR Campus, Hyderabad, Telangana, India. Electronic address:

Superior rectus transposition with medial rectus recession is commonly performed for unilateral esotropic Duane syndrome. For bilateral esotropic Duane syndrome, bilateral medial rectus recession is the most frequently performed surgery and usually provides satisfactory alignment in primary position; however, there is limited improvement in abduction. We report the outcomes of bilateral augmented superior rectus transposition and medial rectus recession in 4 patients with bilateral esotropic Duane syndrome. Read More

J AAPOS 2021 02 16;25(1):16.e1-16.e6. Epub 2021 Feb 16.

Department of Pathology, Hacettepe University School of Medicine, Ankara, Turkey.

Purpose: To determine the prevalence of anomalous extraocular bands in patients who underwent surgery for Duane syndrome and to compare the clinical findings in patients with and without bands.

Methods: Thirty-one patients with Duane syndrome who had their first surgery on rectus muscles to correct the primary deviation and abnormal head posture were included in this retrospective study. Patients were divided into two groups depending on the identification of anomalous extraocular bands intraoperatively. Read More

J Pediatr Ophthalmol Strabismus 2021 Jan;58(1):9-16

Purpose: To report surgical outcomes of patients with exotropic Duane retraction syndrome.

Methods: A retrospective review of the medical records from patients with exotropic Duane retraction syndrome who underwent strabismus surgery and had at least 2 months of postoperative follow-up was conducted. Surgical success was defined as a postoperative horizontal deviation within 8 prism diopters (PD), abnormal head posture (AHP) less than 5 degrees, and a two-step decrease in overshoots. Read More

Strabismus 2021 Mar 22;29(1):34-36. Epub 2021 Jan 22.

Pediatric Ophthalmology, Aravind Eye Hospital, Tirunelveli.

A 10-year-old boy presented with complaints of abnormal eye movements and face turn since early There was a limitation of adduction in LE with narrowing of palpebral fissure and downshoot characteristic of type 2 Duane Syndrome. He was a known case of Arthrogryposis multiplex congenita (AMC) and had undergone multiple orthopedic surgeries. The literature on Duane Retraction Syndrome (DRS) in AMC is limited. Read More

BMC Ophthalmol 2021 Jan 20;21(1):50. Epub 2021 Jan 20.

Ophthalmology Department, Benha University, Benha, Egypt.

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. Read More

Strabismus 2021 Mar 16;29(1):37-41. Epub 2021 Jan 16.

State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China.

A fixation preference for the affected eye is uncommon in patients with unilateral Duane retraction syndrome (DRS), and surgery on the fellow eye is rarely advocated. We are presenting a case report of a 9-year-old boy with unilateral DRS type II in the left eye who received lateral rectus muscle recession in his right amblyopic eye. The patient was orthophoric and his face turn was gone 6 months postoperatively. Read More

N Engl J Med 2021 02 30;384(5):403-416. Epub 2020 Dec 30.

From Brigham and Women's Hospital (L.R.B.), Boston, and Moderna, Cambridge (H.B., R.P., C.K., B.L., W.D., H.Z., S.H., M.I., J. Miller, T.Z.) - both in Massachusetts; Baylor College of Medicine (H.M.E.S.) and Centex Studies (J.S.) - both in Houston; Meridian Clinical Research, Savannah (B.E., S.K., A.B.), and Emory University (N.R.) and Atlanta Clinical Research Center (N.S.), Atlanta - all in Georgia; University of Maryland School of Medicine, Baltimore (K.K., K.N.), and National Institute of Allergy and Infectious Diseases, Bethesda (D.F., M.M., J. Mascola, L.P., J.L., B.S.G.) - both in Maryland; Saint Louis University School of Medicine, St. Louis (S.F.); University of Illinois, Chicago, Chicago (R.N.); George Washington University School of Medicine and Health Sciences, Washington, DC (D.D.); University of California, San Diego, San Diego (S.A.S.); Vanderbilt University School of Medicine, Nashville (C.B.C.); Quality of Life Medical and Research Center, Tucson, AZ (J. McGettigan); Johnson County Clin-Trials, Lenexa, KS (C.F.); Research Centers of America, Hollywood, FL (H.S.); and Fred Hutchinson Cancer Research Center, Seattle (L.C., P.G., H.J.).

Background: Vaccines are needed to prevent coronavirus disease 2019 (Covid-19) and to protect persons who are at high risk for complications. The mRNA-1273 vaccine is a lipid nanoparticle-encapsulated mRNA-based vaccine that encodes the prefusion stabilized full-length spike protein of the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), the virus that causes Covid-19.

Methods: This phase 3 randomized, observer-blinded, placebo-controlled trial was conducted at 99 centers across the United States. Read More

Med Hypotheses 2020 Nov 26;144:110210. Epub 2020 Aug 26.

Xi'an BRIGHT Eye Hospital, Xi'an 710068, Shaanxi Province, China; Department of Anesthesiology, University of Cincinnati College of Medicine, Cincinnati 45267, OH, USA. Electronic address:

Marcus Gunn Syndrome (MGS), mostly occurring in congenital ptosis patients, is characterized by jaw movement evoking ptotic eyelid retraction, followed by collapse. Inverted, bilateral and acquired MGS were also reported. Some cases manifest MGS only temporarily in life. Read More

Eur J Ophthalmol 2020 Nov 23:1120672120973612. Epub 2020 Nov 23.

Department of Ophthalmology and Visual Sciences, The University of Alabama at Birmingham, Callahan Eye Hospital, Birmingham, AL, USA.

Purpose: To evaluate the effect of half tendon vertical rectus muscle transposition (HVRT) combined with medial rectus muscle recession (MRrec) in complete sixth nerve palsy (CSNP) and esotropic Duane Retraction Syndrome (eDRS).

Methods: A retrospective study of patients with unilateral CSNP or eDRS who underwent HVRT combined with medial rectus recession over the course of 18 years. The patients with previous strabismus surgery and follow up less than 3 months were excluded. Read More

Clin Imaging 2021 Mar 6;71:106-116. Epub 2020 Nov 6.

Department of Diagnostic Radiology, Mansoura Faculty of Medicine, Mansoura, Egypt.

We aim to review the imaging features of congenital cranial dysinnervation disorders. Characteristic imaging findings can define subtypes of these disorders through assessment of cranial nerves, extraocular muscles, orbital, and brain abnormalities. Duane retraction syndrome shows absent or hypoplasic 6th cranial nerve and preserved extraocular muscles (EOM). Read More

Int Ophthalmol 2021 Mar 13;41(3):797-803. Epub 2020 Nov 13.

University of Health Sciences Beyoğlu Eye Research and Training Hospital, Istanbul, Turkey.

Purpose: To assess the effect of lateral rectus muscle resection on abduction in Duane retraction syndrome (DRS) type 1.

Methods: The medical records of patients with DRS type 1 were reviewed retrospectively. Fifteen patients who underwent lateral rectus resection were included. Read More

Eur J Ophthalmol 2020 Nov 4:1120672120968731. Epub 2020 Nov 4.

Department of Ophthalmology, Nikookari Eye Hospital, Tabriz University of Medical Science, Tabriz, Iran.

Purpose: To evaluate the efficacy of symmetric bilateral medial rectus recession in large-angle esotropic Duane retraction syndrome (DRS) with moderate to severe globe retraction.

Methods: In a retrospective study, medical reports of 30 patients with esotropia of equal or more than 20 prism diopters (pd) and moderate to serve globe retraction due to unilateral DRS who underwent symmetric bilateral medial rectus recession were reviewed. Age, gender, laterality, amblyopia, length of follow-up, pre- and postoperative measurements of primary position deviation, ocular ductions and severity of globe retraction and abnormal head posture were evaluated. Read More

J AAPOS 2020 10 9;24(5):270.e1-270.e5. Epub 2020 Oct 9.

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

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. Read More

Sci Rep 2020 10 1;10(1):16225. Epub 2020 Oct 1.

Department of Ophthalmology and Central Lab, The Second People's Hospital of Yunnan Province, Kunming, Yunnan Province, China.

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. Read More

J AAPOS 2020 10 22;24(5):268.e1-268.e7. Epub 2020 Sep 22.

Department of Ophthalmology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.

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. Read More

Indian J Ophthalmol 2020 Oct;68(10):2196-2198

Child Sight Institute, Nimmagada Prasad Children's Eye Care Centre, L V Prasad Eye Institute, GMRV Campus, Visakhapatnam, Andhra Pradesh, India.

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). Read More

J Pediatr Ophthalmol Strabismus 2020 Sep;57(5):309-318

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. Read More

Mol Cytogenet 2020 7;13:42. Epub 2020 Sep 7.

Laboratorio de Citogenética, Departamento de Genética Humana, Instituto Nacional de Pediatría, Mexico City, Mexico.

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. Read More

Arch Soc Esp Oftalmol (Engl Ed) 2021 Jan 29;96(1):3-9. Epub 2020 Aug 29.

Sección de Motilidad Ocular, Departamento de Oftalmología, Hospital General Universitario Gregorio Marañón, Madrid, España.

Objective: To study the long-term efficacy and the complications of several transposition techniques for the treatment of Duane syndrome. These included, full vertical rectus transposition, partial vertical rectus transposition, transposition without muscle disinsertion, and superior rectus transposition.

Material And Methods: A retrospective study of the patients diagnosed with Duane syndrome, and who underwent any of the different transposition techniques associated or not to the medial rectus recession with a follow-up longer than 12 months. Read More

Eye (Lond) 2021 Jun 24;35(6):1673-1679. Epub 2020 Aug 24.

Child Sight Institute, Jasti V Ramanamma Children's Eye Care Center, LV Prasad Eye Institute, Hyderabad, Telangana, India.

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. Read More