Duane Retraction Syndrome

Chimerin 1

Oculomotor Muscles

MedlinePlus

Ocular Motility Disorders

Strabismus

Electrooculography

Nystagmus, Pathologic

Eye Movements

Movement Disorders

Duane syndrome

Hamida Saiduzzafar

Chimerin 1

Chimerin

Synkinesis

Carboxypeptidase A6

Alexander Duane

Prism correction

Hypertropia

List of MeSH codes (C11)

Duane-radial ray syndrome

List of OMIM disorder codes

SALL4

List of MeSH codes (C10)

List of MeSH codes (C16)

Brown's syndrome

Phacoemulsification

Bitches Ain't Shit

Anomaly2

• Okihiro syndrome is an autosomal dominant condition characterized by Duane anomaly and radial ray defects. (spandidos-publications.com)
• This syndrome is characterized by radial malformation associated with the Duane anomaly, which is defined as a limitation of abduction and narrowing of the palpebral fissure with retraction of the globe on adduction ( 7 ). (spandidos-publications.com)

Adduction11

• Patients present with limited horizontal eye movement(s) and globe retraction with eyelid fissure narrowing on attempted adduction due to co-contraction of the lateral and medial rectus muscles in one or both eyes. (nih.gov)
• A common, congenital cranial dysinnervation disorder characterized by limited abduction and adduction to a lesser degree than the other Duane syndrome types. (eyepatient.net)
• Retraction of the eyeball into the socket on adduction, with associated narrowing of the palpebral fissure (eye closing). (wikipedia.org)
• The clinician must be persistent in examining abduction and adduction, and in looking for any associated palpebral fissure changes or head postures, when attempting to determine whether what often presents as a common childhood squint (note-"squint" is a British term for two eyes not looking in the same direction) is in fact Duane syndrome. (wikipedia.org)
• Patients with Duane syndrome have strabismus, upshooting or downshooting eye movements, narrowing of palpebral fissure, and retraction of the globe on adduction. (medscape.com)
• A syndrome characterized by marked limitation of abduction of the eye, variable limitation of adduction and retraction of the globe, and narrowing of the palpebral fissure on attempted adduction. (bvsalud.org)
• Methods: This cross-sectional comparative study was performed on 155 cases, including 58 patients with congenital pure head turn due to Duane retraction syndrome (DRS), 33 patients with congenital pure head tilt due to upshoot in adduction or DRS, and 64 orthotropic subjects as the control group. (bvsalud.org)
• Duane syndrome (DS) is typically characterized by abduction and/or adduction deficiency accompanied by eyelid and ocular motility disturbances. (oftalmoloji.org)
• 1,2 This syndrome is characterized by deficient abduction and/or adduction from birth, accompanied by globe retraction on attempted adduction, narrowing of the palpebral fissure, and exaggerated elevation/depression on adduction. (oftalmoloji.org)
• In type 1 Duane's syndrome, the diagnosis is confirmed by limitation of abduction and globe retraction in adduction. (entokey.com)
• Bilateral type 1 Duane's syndrome can be difficult to distinguish from IET, particularly if the child is cross-fixating as the globe retraction in adduction can be quite subtle in infants. (entokey.com)

Duane's6

• Other names for this condition include: Duane's retraction syndrome, eye retraction syndrome, retraction syndrome, congenital retraction syndrome and Stilling-Türk-Duane syndrome. (wikipedia.org)
• who reported on the autopsy findings of two patients with Duane's syndrome. (wikipedia.org)
• Fissure changes, and the other associated characteristics of Duane's such as up or down shoots and globe retraction, are also vital when deciding whether any abduction limitation is the result of Duane's and not a consequence of VI or abducens cranial nerve palsy. (wikipedia.org)
• Acquired Duane's syndrome is a rare event occurring after peripheral nerve palsy. (wikipedia.org)
• Amblyopic risk factors were found in 17 children (68%): nine with refractive amblyopia, four with accommodative esotropia, two with exotropia, one with Duane's retraction syndrome and one with partially accommodative esotropia. (uk.com)
• Performing a doll's eye maneuver to demonstrate full abduction will exclude Duane's syndrome and congenital sixth nerve palsy (a benign condition which usually resolves by 6 weeks of age). (entokey.com)

Ocular2

• Molecular genetic testing for a pathogenic variant in CHN1 , MAFB , or SALL4 is most appropriate for those with a positive family history of isolated Duane syndrome (although de novo pathogenic variants in these genes have been detected in some simplex cases) and for those with clinical ocular findings designated as type I or type III Duane syndrome. (nih.gov)
• SALL4 is highly expressed in the developing midbrain, branchial arch and limbs in healthy individuals, but also serves an important role in the development of skeletal and ocular structures associated with Okihiro syndrome ( 1 , 12 ). (spandidos-publications.com)

Narrowing of the palpebral fissure1

• Duane syndrome is a strabismus condition clinically characterized by congenital non-progressive limited horizontal eye movement accompanied by globe retraction which results in narrowing of the palpebral fissure. (nih.gov)

Strabismus7

• 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. (nih.gov)
• Duane syndrome is a congenital rare type of strabismus most commonly characterized by the inability of the eye to move outward. (wikipedia.org)
• Many individuals with Duane syndrome have strabismus in primary gaze but can use a compensatory head turn to align the eyes, and thus can preserve binocular vision and avoid diplopia. (nih.gov)
• Duane syndrome (DS) is a special type of strabismus that has been recently classified among the congenital cranial dysinnervation disorders (CCDDs) and is encountered in 1-5% of patients with strabismus. (oftalmoloji.org)
• Purpose: The aim of this study is to present six cases of pulled-in-two syndrome (PITS) in strabismus surgeries and to discuss our prevention and management strategies. (bvsalud.org)
• Marcus Gunn jaw-winking syndrome is associated with strabismus in 50-60% of cases. (medscape.com)
• Amblyopia occurs in 30-60% of patients with Marcus Gunn jaw-winking syndrome and is almost always secondary to strabismus or anisometropia, and, only rarely, is due to occlusion by a ptotic eyelid. (medscape.com)

Radial-ray syndrome1

• For example, Duane-radial ray syndrome is characterized by this eye disorder in conjunction with abnormalities of bones in the arms and hands. (medlineplus.gov)

Disorder9

• Isolated Duane retraction syndrome is a disorder of eye movement. (medlineplus.gov)
• Isolated Duane retraction syndrome usually occurs in people with no history of the disorder in their family. (medlineplus.gov)
• The syndrome was first described by ophthalmologists Jakob Stilling (1887) and Siegmund Türk (1896), and subsequently named after Alexander Duane, who discussed the disorder in more detail in 1905. (wikipedia.org)
• Wyburn-Mason syndrome is a congenital, nonhereditary, sporadic disorder without sexual or racial predilection. (medscape.com)
• Wyburn-Mason syndrome is a congenital disorder. (medscape.com)
• Cortnum SO, Sorensen P, Andresen J. Bilateral Wyburn-Mason syndrome presenting as acute subarachnoid haemorrhage - a very rare congenital neurocutaneous [corrected] disorder. (medscape.com)
• Duane Retraction Syndrome (DRS) is a rare eye movement disorder that affects the muscles responsible. (eyeclinic-karachi.com)
• Wildervanck syndrome, also known as cervicooculoacoustic syndrome, is a rare genetic disorder that primarily affects females. (rarediseases.org)
• It's called Duane Retraction Syndrome and it's a disorder for which there is no surgical intervention. (blogspot.com)

Genetic6

• There are two known genetic associations with Duane Syndrome. (wikipedia.org)
• The patient underwent a genetic evaluation, which failed to diagnose a specific syndrome. (medscape.com)
• More than 98% of individuals with isolated Duane syndrome and no family history lack an identified genetic etiology. (nih.gov)
• 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. (spandidos-publications.com)
• Although the exact etiology and risk factors associated with Wyburn-Mason syndrome are unknown, studies have suggested a role for genetic factors in the pathogenesis of retinal AVMs. (medscape.com)
• CFEOM 2 and Tukel syndrome are inherited as autosomal recessive genetic conditions. (rarediseases.org)

Amblyopia3

• About 10 percent of people with isolated Duane retraction syndrome develop amblyopia ("lazy eye"), a condition that causes vision loss in the affected eye. (medlineplus.gov)
• 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. (nih.gov)
• Individuals with Duane syndrome who lack binocular vision are at risk for amblyopia. (nih.gov)

Eyeball1

• All three types are characterized by retraction of the eyeball as the eye moves inward. (medlineplus.gov)

Palsy2

• A sixth and seventh nerve palsy may be due to Möbius syndrome, which may be associated with orofacial and limb abnormalities ( Fig. 74.6 ). (entokey.com)
• Plication augmentation of the modified Hummelsheim procedure for treatment of large-angle esotropia due to abducens nerve palsy and type 1 Duane syndrome. (omeka.net)

Congenital deafness1

• While usually isolated to the eye abnormalities, Duane syndrome can be associated with other problems including cervical spine abnormalities Klippel-Feil syndrome, Goldenhar syndrome, heterochromia, and congenital deafness. (wikipedia.org)

Prevalence1

• Wyburn-Mason syndrome is rare, and the precise incidence and prevalence are poorly defined. (medscape.com)

Gene4

• However, researchers have not discovered the gene or genes responsible for autosomal recessive isolated Duane retraction syndrome. (medlineplus.gov)
• Localization of a gene for Duane retraction syndrome to chromosome 2q31. (medlineplus.gov)
• Gene sequencing and bioinformatics analysis were performed to determine whether a SALL4 variant was the molecular cause of the syndrome. (spandidos-publications.com)
• Mutations in this gene may be linked to epilepsy and febrile seizures, and a translocation t(6;8)(q26;q13) involving this gene has been associated with Duane retraction syndrome. (nih.gov)

Signs and symptoms2

• About 70 percent of all cases of Duane retraction syndrome are isolated, which means they occur without other signs and symptoms. (medlineplus.gov)
• Similarly, neuro--ophthalmic signs and symptoms of Wyburn-Mason syndrome result from retinal or intracranial AVMs and are related to AVM size, extent, and location. (medscape.com)

Limitation1

• The characteristic features of the syndrome are: Limitation of abduction (outward movement) of the affected eye. (wikipedia.org)

Occurs2

• Globe retraction occurs when the globe is displaced deeper within the orbit from its normal position. (medscape.com)
• globe retraction occurs as a result of abnormal innervation of the lateral rectus muscle by the oculomotor nerve (cranial nerve III). (nih.gov)

Inheritance3

• When isolated Duane retraction syndrome is caused by CHN1 mutations, it has an autosomal dominant inheritance pattern. (medlineplus.gov)
• In a few families with isolated Duane retraction syndrome, the pattern of affected family members suggests autosomal recessive inheritance . (medlineplus.gov)
• Joubert syndrome (JBTS, OMIM# 213300) [ 1 ] is a rare disease with autosomal recessive inheritance, caused by the dysfunction of primary cilia and presenting as a neurodevelopmental syndrome [ 2 ]. (biomedcentral.com)

Bonnet-Dechaume-Blanc3

• Wyburn-Mason syndrome (WMS), also known as Bonnet-Dechaume-Blanc syndrome or retinoencephalofacial angiomatosis, is a rare nonhereditary congenital phakomatosis characterized by arteriovenous malformations (AVMs) of the retina, brain, and, in some cases, facial skin. (medscape.com)
• Spontaneous involution of retinal and intracranial arteriovenous malformation in Bonnet-Dechaume-Blanc syndrome. (medscape.com)
• Bonnet-Dechaume-Blanc syndrome or Wyburn-Mason syndrome]. (medscape.com)

Incidence1

• The worldwide incidence of Wyburn-Mason syndrome is also rare. (medscape.com)

Characteristics1

• The present study investigated the clinical characteristics of a case of Okihiro syndrome. (spandidos-publications.com)

Symptoms1

• Neurologic symptoms of Wyburn-Mason syndrome (WMS) are extremely variable and depend on the size, location, and configuration of the central nervous system (CNS) AVM. (medscape.com)

Typically characterized1

• Wildervanck syndrome is typically characterized by three primary findings (triad). (rarediseases.org)

Findings3

• The diagnosis of Duane syndrome is usually made by an ophthalmologist based on clinical findings. (nih.gov)
• Matsuo T, Yanai H, Sugiu K, Tominaga S, Kimata Y. Orbital exenteration after transarterial embolization in a patient with Wyburn-Mason syndrome: pathological findings. (medscape.com)
• Tukel syndrome is characterized by missing and webbed fingers and toes in addition to the eye findings. (rarediseases.org)

Commonly2

• Less commonly, isolated Duane retraction syndrome can run in families. (medlineplus.gov)
• In contrast to other phakomatoses, Wyburn-Mason syndrome does not commonly cause cutaneous manifestations. (medscape.com)

Eyelid3

• The wink reflex consists of a momentary upper eyelid retraction or elevation to an equal or higher level than the normal fellow eyelid upon stimulation of the ipsilateral pterygoid muscle. (medscape.com)
• This rapid, abnormal motion of the eyelid can be the most disturbing aspect of the jaw-winking syndrome. (medscape.com)
• Marcus Gunn jaw-winking with left upper eyelid retraction on opening of the mouth. (medscape.com)

Abnormalities1

• Although these combined vascular abnormalities were recognized prior to the reports of Bonnet (1937)[2] and Wyburn-Mason (1943),[3] this syndrome is most frequently referred to as Wyburn--Mason syndrome (WMS) to honor the initial author of the classic case series. (medscape.com)

Lateral1

• Mechanism for globe retraction in Duane retraction syndrome is believed to be anomalous innervation of lateral rectus muscles from branches of oculomotor nerve (cranial nerve III). (medscape.com)

Type1

• We report a male patient with atypical presentation of Joubert syndrome type 23, thus expanding the phenotype. (biomedcentral.com)

Variants1

• The de novo heterozygous c.3060delG variant was the molecular pathological cause of Okihiro syndrome in the present study and expanded the database of known SALL4 variants. (spandidos-publications.com)

Patients5

• A thorough history and examination are required to determine appropriate management for patients with globe retraction. (medscape.com)
• [ 2 ] Both electromyographic and autopsy studies in Duane syndrome patients have demonstrated this anomalous innervation. (medscape.com)
• 7. Chromosomal microarray analysis of patients with Duane retraction syndrome. (nih.gov)
• Patients with Okihiro syndrome exhibit different degrees of radial line hypoplasia and other types of deformity, which include hypoplasia of the thenar, radius and forearm, spinal and external ear deformity, hearing impairment and heart and kidney abnormality ( 9 - 11 ). (spandidos-publications.com)
• Patients with Marcus Gunn jaw-winking syndrome have variable degrees of blepharoptosis in the resting, primary position. (medscape.com)

Anomalies1

• The majority of affected individuals with Duane syndrome have isolated Duane syndrome (i.e., they do not have other detected congenital anomalies). (nih.gov)

Familial1

• Wyburn-Mason syndrome has no reported racial predilection, and there is no familial form of the syndrome. (medscape.com)

Clinical2

• According to some researchers, evidence suggests that Wildervanck syndrome may be a clinical variant of KFS. (rarediseases.org)
• Clinical features were consistent with JBTS already from infancy, yet the syndrome was not suspected before cerebral MRI later in childhood showed the characteristic molar tooth sign and ectopic neurohypophysis. (biomedcentral.com)

Globe9

• Globe retraction may result from neurogenic, myogenic, or mechanical etiologies. (medscape.com)
• There are many causes of globe retraction. (medscape.com)
• Globe retraction also can be seen in metastatic scirrhous breast carcinoma from cicatrization of orbital tissue. (medscape.com)
• Globe retraction results from either enlargement of orbital cavity after blowout fracture or prolapse of orbital tissue into adjacent sinus. (medscape.com)
• Orbital fat atrophy or contraction of an entrapped extraocular muscle also can cause globe retraction after orbital blowout fractures. (medscape.com)
• [ 13 ] Most common orbital metastasis to cause globe retraction is scirrhous breast carcinoma (82%), although it also has been reported with lung , gastrointestinal , and prostate carcinomas . (medscape.com)
• The cause of globe retraction is cicatrization with contraction of myofibroblasts in orbital tissue. (medscape.com)
• A similar mechanism can cause globe retraction in sclerosing idiopathic orbital inflammation (pseudotumor). (medscape.com)
• Patient with metastatic breast carcinoma to the intraconal space of the right orbit resulting in mild globe retraction and enophthalmos. (medscape.com)

Malformation2

• The proband was diagnosed with Okihiro syndrome, which is characterized by bone abnormality in the arms and hands (radial ray malformation, absence of thumbs) and sensorineural hearing loss. (spandidos-publications.com)
• Schmidt D. [Congenital retinocephalic facial vascular malformation syndrome. (medscape.com)

Marcus Gunn Jaw1

• Although Marcus Gunn jaw-winking syndrome is usually unilateral, it can present bilaterally in rare cases. (medscape.com)

Usually unilateral1

• Wyburn-Mason syndrome is usually unilateral and often asymptomatic. (medscape.com)