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Clinical Ophthalmology (Auckland, N.Z.) 2017Duane retraction syndrome (DRS) is a congenital eye movement anomaly characterized by variable horizontal duction deficits, with narrowing of the palpebral fissure and... (Review)
Review
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. Usually, patients with unilateral type I Duane syndrome have esotropia more frequently than exotropia, those with type II have exotropia and those with type III have esotropia and exotropia occurring equally common. Cases of bilateral DRS may have variable presentation depending upon the type of presentation in each eye. As regards its management, DRS classification based on primary position deviation as esotropic, exotropic or orthotropic is more relevant than Huber's classification before planning surgery. Surgical approach to these patients is challenging and must be individualized based on the amount of ocular deviation, abnormal head position, associated globe retraction and overshoots.
PubMed: 29133973
DOI: 10.2147/OPTH.S127481 -
Indian Journal of Ophthalmology Oct 2017Congenital 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...
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.
Topics: Abducens Nerve Diseases; Abnormalities, Multiple; Diagnosis, Differential; Duane Retraction Syndrome; Female; Humans; Infant; Male; Neuroimaging; Oculomotor Muscles
PubMed: 29044089
DOI: 10.4103/ijo.IJO_335_17 -
Taiwan Journal of Ophthalmology 2017To report the surgical effect in upshoot of Duane retraction syndrome (DRS) with corecession of horizontal rectus muscles with or without Y-splitting.
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. Their age of receiving surgery ranged from 5 to 41 years. Four of the patients were male, and five had their left eye involved. Three underwent recession of ipsilateral medial and lateral rectus (LR) muscles, and the other three also received Y-splitting of LR muscle when recession. One of the patients that received Y-splitting showed mild hypertropia at down gaze postoperatively, and another one had little improvement of exotropia at the primary position. All patients showed improvement of their upshoots and lid fissure narrowing in adduction as well as face turn.
CONCLUSION
Postoperative improvements in abnormal head posture and upshoots were achieved with corecession of horizontal muscles with or without Y-splitting. Although Y-splitting of the LR muscle is an effective surgery, it might cause undesired complications.
PubMed: 29018752
DOI: 10.4103/tjo.tjo_23_17 -
Taiwan Journal of Ophthalmology 2017Duane 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... (Review)
Review
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. In this paper, the aim is to give some guidelines to the reader for selection of the most appropriate treatment method for the patient.
PubMed: 29018747
DOI: 10.4103/tjo.tjo_20_17 -
Turkish Journal of Ophthalmology Aug 2017To determine the most common ocular causes and types of abnormal head position (AHP) and describe their clinical features.
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.
RESULTS
A total of 163 patients including 61 women (37.4%) and 102 men (62.6%), with a mean age of 19.9±18.3 were recruited. The most common causes of AHP were determined as fourth cranial nerve palsy (33.7%), Duane retraction syndrome (21.5%), sixth cranial nerve palsy (11%), nystagmus blockage syndrome (9.8%) and Brown syndrome (6.7%). Other less frequent causes were A-V pattern strabismus, comitant strabismus, thyroid orbitopathy and third cranial nerve palsy. The most common types of AHP were head tilt (45.4%) and face turn (36.8%). Out of 142 patients whose visual acuity could be evaluated, 28.2% had amblyopia. The frequency of amblyopia varied depending on the diagnosis (p<0.001), while there was no relation between amblyopia and different types of AHP (p=0.497). Stereopsis and fusion could be tested in 128 patients and 43.8% of them had stereopsis and fusion. The presence of stereopsis and fusion was found to be related with the diagnosis (p=0.001), whereas it was not related with the types of AHP (p=0.580). The presence of amblyopia was not significantly associated with fusion (p=1.000) or stereopsis (p=0.602).
CONCLUSION
There are many ocular pathologies that cause AHP. Patients with similar diagnoses may have different types of AHP. Patients may have amblyopia and impaired binocularity despite AHP. Therefore, all patients with AHP should be examined in detail and these points should be considered in the treatment plan.
PubMed: 28845325
DOI: 10.4274/tjo.42068 -
Indian Journal of Ophthalmology May 2017A 12-year-old girl presented with esotropia and face turn since birth. Ocular motility examination showed restricted abduction associated with down shoot and retraction...
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.
Topics: Child; Diagnosis, Differential; Duane Retraction Syndrome; Eye Movements; Female; Humans; Oculomotor Muscles; Rare Diseases
PubMed: 28574005
DOI: 10.4103/ijo.IJO_72_14 -
Korean Journal of Ophthalmology : KJO Jun 2017Congenital cranial dysinnervation disorders are a group of diseases caused by abnormal development of cranial nerve nuclei or their axonal connections, resulting in... (Review)
Review
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.
Topics: Abducens Nerve; Cranial Nerve Diseases; Duane Retraction Syndrome; Humans; Magnetic Resonance Imaging; Oculomotor Nerve; Trochlear Nerve
PubMed: 28534340
DOI: 10.3341/kjo.2017.0024 -
BMC Ophthalmology May 2017Duane retraction syndrome (DRS) consists of abduction deficit, globe retraction and upshoots or downshoots with adduction. The abducens nerve on the affected side is...
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.
CASE PRESENTATION
A 6-month-old boy presented with esotropia which had been noticed in early infancy. He showed limited abduction, fissure narrowing on attempted adduction and a small upshoot OS. Left abducens nerve was not identified on magnetic resonance imaging compatible with Duane retraction syndrome type 1. He showed full abduction after bilateral medial rectus recession of 6.0 mm at the age of 9 months, and remained orthotropia with full abduction OU 2 years postoperatively. He is my only patient with Duane retraction syndrome who showed full abduction after bilateral medial rectus recession.
CONCLUSIONS
A patient with the type 1 Duane retraction syndrome rarely may show full abduction after bilateral medial rectus recession mimicking infantile esotropia.
Topics: Abducens Nerve; Duane Retraction Syndrome; Esotropia; Eye Movements; Humans; Infant; Magnetic Resonance Imaging; Male; Oculomotor Muscles; Postoperative Period; Vision, Binocular
PubMed: 28526001
DOI: 10.1186/s12886-017-0475-6 -
Human Molecular Genetics Aug 2017Unraveling the genetics of the paralytic strabismus syndromes known as congenital cranial dysinnervation disorders (CCDDs) is both informing physicians and their... (Review)
Review
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. CFEOM presents with congenital ptosis and restricted eye movements, and can be caused by heterozygous missense mutations in the kinesin motor protein KIF21A or in the β-tubulin isotypes TUBB3 or TUBB2B. CFEOM-causing mutations in these genes alter protein function and result in axon growth and guidance defects. DRS presents with inability to abduct one or both eyes. It can be caused by decreased function of several transcription factors critical for abducens motor neuron identity, including MAFB, or by heterozygous missense mutations in CHN1, which encodes α2-chimaerin, a Rac-GAP GTPase that affects cytoskeletal dynamics. Examination of the orbital innervation in mice lacking Mafb has established that the stereotypical misinnervation of the lateral rectus by fibers of the oculomotor nerve in DRS is secondary to absence of the abducens nerve. Studies of a CHN1 mouse model have begun to elucidate mechanisms of selective vulnerability in the nervous system.
Topics: Animals; Axons; Congenital Abnormalities; Duane Retraction Syndrome; Eye Diseases, Hereditary; Fibrosis; Humans; Kinesins; Mice; Mutation; Mutation, Missense; Ocular Motility Disorders; Oculomotor Muscles; Ophthalmoplegia; Skull; Tubulin
PubMed: 28459979
DOI: 10.1093/hmg/ddx168 -
Clinical Ophthalmology (Auckland, N.Z.) 2017To report the results of using prismatic glasses for Duane retraction syndrome (DRS).
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 12.2±17.7 months. In all cases, 2 main variables were evaluated: horizontal deviation in the primary position and face turn. Prismatic glasses were provided to patients according to the degree of shift in the primary position.
RESULTS
The mean age of patients was 11.2 years. An analysis was performed on the data collected from 12 cases; 7 patients were females (58.3%) and 5 were males (41.7%), with 11 (91.7%) cases being of type I DRS. All 12 patients had abnormal head posture (face turn) and an angle of mean deviation equaling 10 PD (prism dioptri).
CONCLUSION
Treatment was individualized on a case-by-case basis. Prismatic glasses are useful for eliminating abnormal head posture and ocular misalignment in selected cases.
PubMed: 28442887
DOI: 10.2147/OPTH.S124183