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Saudi Journal of Ophthalmology :... 2019To assess the clinical characteristics of Duane Retraction Syndrome (DRS) in Al-Medina region, in patients attending a pediatric ophthalmology clinic at Ohud Hospital.
PURPOSE
To assess the clinical characteristics of Duane Retraction Syndrome (DRS) in Al-Medina region, in patients attending a pediatric ophthalmology clinic at Ohud Hospital.
METHOD
A cross-sectional observational study was conducted from October 2017 to June 2018 at Ohud Hospital, Al-Medina region, Saudi Arabia. Data was collected using a sheet containing eighteen simple items which include demographic data, family history, surgical history, the clinical characteristics of the disease and the physician's treatment plan. Twenty patients were included in this study.
RESULTS
All twenty patients included in the study were diagnosed with DRS type I. Male and female were symmetrical in numbers as both 10 (50.0%) respectively. The mean age of the subjects was 8.7 years (SD 9.6). 95% of the subject were unilaterally affected while five percent of them were affected both sides of the eyes. 75% of the patients were affected on the left eye while 20% were affected on the right side. 35% of the patients had amblyopia in the affected eye. 25% of the patients had an abnormal head position. Abnormal eye movement (upshoot and downshoot) more common when the right eye is affected (-0.035). 75% of the patients were orthotropic while 30% had esotropia. 75% of patients were positive of parents' consanguinity. 16 patients (80.0%) were from Al-Medina city while four of them (20.0%) were from the different area of Al-Medina region (Al Hejeria, Al Henakia, Omluj, Yatmah).
CONCLUSION
This cross-sectional observational study is the first one that evaluates DRS in Al-Medina region. Associated abnormal eye movement more common when the right eye is affected. Parents' consanguinity may play a role in the occurrence of DRS as it is not considered as a rare disease in our region. Therefore, more studies are needed to establish the relationship between the occurrence of DRS and parents' consanguinity in our region. Also, further studies are needed to establish the relationship between abnormal eye movement and the involvement of the right eye.
PubMed: 31920443
DOI: 10.1016/j.sjopt.2019.07.007 -
Clinical Genetics Aug 2014Eye misalignment, called strabismus, is amongst the most common phenotypes observed, occurring in up to 5% of individuals in a studied population. While misalignment is... (Review)
Review
Eye misalignment, called strabismus, is amongst the most common phenotypes observed, occurring in up to 5% of individuals in a studied population. While misalignment is frequently observed in rare complex syndromes, the majority of strabismus cases are non-syndromic. Over the past decade, genes and pathways associated with syndromic forms of strabismus have emerged, but the genes contributing to non-syndromic strabismus remain elusive. Genetic testing for strabismus risk may allow for earlier diagnosis and treatment, as well as decreased frequency of surgery. We review human and model organism literature describing non-syndromic strabismus, including family, twin, linkage, and gene expression studies. Recent advances in the genetics of Duane retraction syndrome are considered, as relatives of those impacted show elevated familial rates of non-syndromic strabismus. As whole genome sequencing efforts are advancing for the discovery of the elusive strabismus genes, this overview is intended to support the interpretation of the new findings.
Topics: Animals; Disease Models, Animal; Duane Retraction Syndrome; Genetic Linkage; Humans; Risk Factors; Strabismus; Twin Studies as Topic
PubMed: 24579652
DOI: 10.1111/cge.12367 -
Molecular Cytogenetics 2020Monosomy of 1p36 is considered the most common terminal microdeletion syndrome. It is characterized by intellectual disability, growth retardation, seizures, congenital...
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. In patients with proximal deletions, little is known about the associated phenotype, since only a few cases have been reported in the literature. Ocular manifestations in patients with classical 1p36 monosomy are frequent and include strabismus, myopia, hypermetropia, and nystagmus. However, as of today only one patient with 1p36 deletion and Duane retraction syndrome (DRS) has been reported.
CASE PRESENTATION
We describe a patient with intellectual disability, facial dysmorphism, and bilateral Duane retraction syndrome (DRS) type 1. Array CGH showed a 7.2 Mb de novo deletion from 1p36.31 to 1p36.21.
DISCUSSION
Our patient displayed DRS, which is not part of the classical phenotype and is not a common clinical feature in 1p36 deletion syndrome; we hypothesized that this could be associated with the overlapping deletion between the distal and proximal 1p36 regions. DRS is one of the Congenital Cranial Dysinnervation Disorders, and a genetic basis for the syndrome has been extensively reported. The gene is located at 1p36.31 and could be associated with oculomotor alterations, including DRS, since this gene is involved in the development of the 3rd cranial nerve and the 6th cranial nerve's nucleus. We propose that oculomotor anomalies, including DRS, could be related to proximal 1p36 deletion, warranting a detailed ophthalmologic evaluation of these patients.
PubMed: 32939224
DOI: 10.1186/s13039-020-00510-5 -
Archivos Argentinos de Pediatria Jun 2023Wildervanck syndrome (also known as cervico-oculo-acoustic dysplasia) is a very rare disease, characterized by the typical triad of cervical vertebral fusion or...
Wildervanck syndrome (also known as cervico-oculo-acoustic dysplasia) is a very rare disease, characterized by the typical triad of cervical vertebral fusion or Klippel-Feil anomaly, Duane syndrome (paresis of the sixth cranial nerve), and hearing loss. Other vascular, cardiac, and musculoskeletal conditions have also been described. In this case report, we describe a patient who met the cardinal triad and also presented additional clinical data that have not been previously reported, which contribute to broadening the disease phenotype. We have also reviewed the bibliography related to this syndrome.
Topics: Humans; Klippel-Feil Syndrome; Duane Retraction Syndrome; Deafness; Abnormalities, Multiple
PubMed: 36413195
DOI: 10.5546/aap.2022-02624.eng -
Transactions of the American... 2008Congenital aberrant tearing is characterized by tearing when eating ("crocodile tears"), lack of emotional tearing, or both. Most reported cases are associated with... (Review)
Review
PURPOSE
Congenital aberrant tearing is characterized by tearing when eating ("crocodile tears"), lack of emotional tearing, or both. Most reported cases are associated with Duane syndrome. In our previous studies we observed aberrant tearing in individuals with thalidomide embryopathy and Möbius sequence. This report summarizes the literature on the subject and adds 3 new studies that give information on this unusual condition.
METHODS
Twenty-eight individuals with Möbius sequence were interviewed about tearing symptoms at a support group meeting in Italy. In Sweden 30 adults primarily from the original thalidomide series were reexamined. In this latter study, a Schirmer test was done at baseline and repeated 5 minutes after eating. Twenty families in Brazil who have children with Möbius sequence were questioned about tearing symptoms and exposure to misoprostol during pregnancy.
RESULTS
In the 28 Italian individuals, either "crocodile tears" or lack of emotional tearing was noted in 7 cases. In the thalidomide study, 10 of 30 patients had tearing when eating and 7 had no emotional tearing. Low Schirmer scores or increased tearing after eating was noted in a few asymptomatic individuals. Among the 20 Brazilian children with Möbius sequence, 10 had some tearing abnormality.
CONCLUSION
Congenital anomalous lacrimation is rare but usually associated with Duane syndrome or abduction deficits, as in Möbius sequence and, less frequently, facial nerve palsy. Studies implicate an early insult in development at 4 to 6 weeks. At that time the facial nerve, sixth nerve, and lacrimal nucleus are in close proximity in the embryo.
Topics: Abnormalities, Drug-Induced; Duane Retraction Syndrome; Eye Abnormalities; Female; Humans; Lacrimal Apparatus; Lacrimal Apparatus Diseases; Male; Middle Aged; Mobius Syndrome; Retrospective Studies; Surveys and Questionnaires; Tears; Thalidomide
PubMed: 19277226
DOI: No ID Found -
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 -
Middle East African Journal of... 2016Duane's retraction syndrome (DRS) is characterized by limitations in horizontal eye movements, globe retraction, and palpebral fissure narrowing on attempted adduction....
Duane's retraction syndrome (DRS) is characterized by limitations in horizontal eye movements, globe retraction, and palpebral fissure narrowing on attempted adduction. This disorder is caused by a disturbance in innervation originating in the brain stem and represents <1% of all cases of strabismus. It is postulated that this syndrome is due to an insult during the early weeks (8-10 weeks) of pregnancy and is 10-20 times more frequently associated with other systemic congenital anomalies. This case report of bilateral DRS included bilateral iris-retinal coloboma and congenital heart disease, sensory hearing loss, and inguinal hernia.
Topics: Child; Coloboma; Duane Retraction Syndrome; Female; Hearing Loss, Sensorineural; Heart Defects, Congenital; Hernia, Inguinal; Humans; Iris; Retina
PubMed: 27555711
DOI: 10.4103/0974-9233.186119 -
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 -
Ophthalmic Genetics Oct 2021: Duane retraction syndrome and arthrogryposis multiplex congenita have an incidence of approximately 1:1500-1:3000 live births. However, the association of these two...
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.
: 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.: Whole Exome Sequencing showed a de novo premature stop codon in ZC4H2. Extensive genetic and metabolic work was negative otherwise and Brain MRI showed delayed non-specific myelination abnormalities. She continues to have significant delays but does not have regression, seizures or other neurological complications. She has required a multidisciplinary approach for the management of her multiple contractures.: This case confirms ZC4H2 as a cause of syndromic DRS and extends the ZC4H2 phenotype to include Marcus Gunn jaw winking.
Topics: Apraxias; Arthrogryposis; Blepharoptosis; Child; Codon, Nonsense; Contracture; Duane Retraction Syndrome; Female; Genetic Diseases, X-Linked; Heart Defects, Congenital; Humans; Intracellular Signaling Peptides and Proteins; Jaw Abnormalities; Magnetic Resonance Imaging; Muscular Atrophy; Mutation; Nervous System Diseases; Nuclear Proteins; Ophthalmoplegia; Reflex, Abnormal; Exome Sequencing
PubMed: 33949289
DOI: 10.1080/13816810.2021.1923040 -
Vision Research Nov 2010In view of all the reported evidence by electromyography in the 1970s, by histology in the 1980s, and by cerebral imagery since the 2000s, Duane retraction syndrome... (Review)
Review
In view of all the reported evidence by electromyography in the 1970s, by histology in the 1980s, and by cerebral imagery since the 2000s, Duane retraction syndrome (DRS) has been described as the consequence of a congenital anomaly of the 6th cranial nerve nuclei with aberrant innervations by supply from the 3rd cranial nerve. Both genetic and environmental factors are likely to play a role when the cranial nerves and ocular muscles are developing between the 4th and the 8th week of gestation. New data from eye movement recordings contributed to better understanding the binocular control of saccades. Modeling of saccades in DRS seems promising for the quantification of the innervational deficit and the mechanical properties of the eye plant. The usual clinical classification of DRS needs to be updated in order to match more accurately the underlying dysinnervation of the extra ocular muscles and to illustrate the continuum that exists between the various forms. This review aims to summarize the major findings about DRS and to guide the clinician in the surgical management of this particular form of strabismus.
Topics: Cerebellum; Duane Retraction Syndrome; Electromyography; Eye Movements; Genetic Linkage; Humans; Orbit
PubMed: 20801148
DOI: 10.1016/j.visres.2010.08.019