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Journal of Pediatric Ophthalmology and... 2024Restrictive strabismus is a known complication of orbitozygomatic craniotomy. However, a pseudo-Duane syndrome has not been described following this procedure. The...
Restrictive strabismus is a known complication of orbitozygomatic craniotomy. However, a pseudo-Duane syndrome has not been described following this procedure. The authors describe a 58-year-old woman who after craniotomy developed incomitant left exotropia with an adduction deficit; the globe retracted and palpebral fissure narrowed with attempted ocular adduction. .
Topics: Female; Humans; Middle Aged; Duane Retraction Syndrome; Strabismus; Eyelids; Iatrogenic Disease
PubMed: 38306234
DOI: 10.3928/01913913-20231214-04 -
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 -
Middle East African Journal of... 2015Managing a case of incomitant strabismus from nerve palsy or extraocular muscle loss is a major challenge. Among possible management options are globe or extraocular... (Review)
Review
Managing a case of incomitant strabismus from nerve palsy or extraocular muscle loss is a major challenge. Among possible management options are globe or extraocular muscle fixation to the orbital wall coupled with weakening or strengthening of the relevant antagonist. Extraocular muscle fixation to the orbital wall can also be used in cases of abnormal synkinesis to eliminate the abnormal eye movements of a misfiring extraocular muscle, which thereby allows the use of standard paralytic strabismus surgery techniques. This review article summarizes indications and techniques of periosteal fixation procedures for incomitant strabismus.
Topics: Duane Retraction Syndrome; Humans; Oculomotor Muscles; Oculomotor Nerve Diseases; Ophthalmologic Surgical Procedures; Ophthalmoplegia; Strabismus
PubMed: 26180470
DOI: 10.4103/0974-9233.159736 -
PloS One 2016We have previously reported that the presence of the abducens nerve was variable in patients with type 3 Duane's retraction syndrome (DRS), being present in 2 of 5 eyes...
BACKGROUND
We have previously reported that the presence of the abducens nerve was variable in patients with type 3 Duane's retraction syndrome (DRS), being present in 2 of 5 eyes (40%) and absent in 3 (60%) on magnetic resonance imaging (MRI). The previous study included only 5 eyes with unilateral DRS type 3.
OBJECTIVES
To supplement existing scarce pathologic information by evaluating the presence of the abducens nerve using high resolution thin-section MRI system in a larger number of patients with DRS type 3, thus to provide further insight into the pathogenesis of DRS.
DATA EXTRACTION
A retrospective review of medical records on ophthalmologic examination and high resolution thin-section MRI at the brainstem level and orbit was performed. A total of 31 patients who showed the typical signs of DRS type 3, including abduction and adduction deficit, globe retraction, narrowing of fissure on adduction and upshoot and/or downshoot, were included. The abducens nerve and any other extraocular muscle abnormalities discovered by MRI were noted.
RESULTS
DRS was unilateral in 26 patients (84%) and bilateral in 5 patients (16%). Two out of 5 bilateral patients had DRS type 3 in the right eye and DRS type 1 in the left eye. Of the 34 affected orbits with DRS type 3 in 31 patients, the abducens nerve was absent or hypoplastic in 31 eyes (91%) and present in 3 eyes (9%). Patients with a present abducens nerve showed more limitation in adduction compared to patients with an absent abducens nerve (P = 0.030).
CONCLUSIONS
The abducens nerve is absent or hypoplastic in 91% of DRS type 3. Patients with a present abducens nerve showed more prominent limitation of adduction. As DRS type 3 partly share the same pathophysiology with type 1 and 2 DRS, the classification of DRS may have to be revised according to MRI findings.
Topics: Abducens Nerve; Adolescent; Adult; Aged; Child; Child, Preschool; Duane Retraction Syndrome; Female; Humans; Infant; Magnetic Resonance Imaging; Male; Middle Aged
PubMed: 27352171
DOI: 10.1371/journal.pone.0150670 -
Cureus Feb 2023A two year presented to the clinic with abnormal head posture and right-sided face turn since birth. On examination, he showed a large right face turn of 40° while...
A two year presented to the clinic with abnormal head posture and right-sided face turn since birth. On examination, he showed a large right face turn of 40° while concentrating on a near target. His ocular motility assessment showed a -4 limitation of adduction in the left eye with 40 prism diopters (PD) exotropia and grade 1 globe retraction of the left eye. He was diagnosed with type II Duane retraction syndrome (DRS) in the left eye and planned for lateral rectus recession of both eyes. Postoperatively, the patient was orthotropic at distance and near in primary gaze with resolved face turn and improvement of limitation of adduction to -2, but some limitation of abduction -1 in the left eye was observed. Herein, we discuss the clinical features, etiologies, tailored evaluation, and management for type II DRS patient.
PubMed: 36846636
DOI: 10.7759/cureus.35351 -
Turkish Journal of Ophthalmology Aug 2015To present the outcomes of modified lateral rectus Y-splitting combined with either unilateral or bilateral horizontal rectus recession in Duane Retraction Syndrome...
OBJECTIVES
To present the outcomes of modified lateral rectus Y-splitting combined with either unilateral or bilateral horizontal rectus recession in Duane Retraction Syndrome (DRS) with significant upshoot or downshoot.
MATERIALS AND METHODS
A total of 12 patients including 10 patients with Type I DRS and 2 with Type III DRS underwent modified Y-splitting surgery. Amount of additional recessions varied with the degree of preoperative deviation by intraoperative adjustable suture technique. Preoperatively 3 patients had esotropia (ET), 6 had exotropia (XT), and 3 patients had orthotropia. The mean preoperative deviation was 19.3 prism diopters (PD) (range, 18-20 PD) in ET patients and 19.2 PD (range, 16-20 PD) in XT patients.
RESULTS
Postoperatively, all patients had significant correction in horizontal deviation and aligned within 4 PD of orthotropia, and no patients exhibited abnormal head posture. Co-contraction and globe retraction were markedly reduced and abnormal ocular vertical movement disappeared or significantly decreased in all cases. No patients experienced recurrence of ocular motility disorders in the mean 26-month (range, 13-66 months) follow-up period.
CONCLUSION
Modified Y-splitting surgery combined with co-contracting horizontal muscle recession technique seems to be a safe and effective treatment in DRS.
PubMed: 27800223
DOI: 10.4274/tjo.70188 -
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 -
Molecular Medicine Reports Apr 2022Okihiro syndrome is an autosomal dominant condition characterized by Duane anomaly and radial ray defects. The present study aimed to analyze the clinical manifestations...
Okihiro syndrome is an autosomal dominant condition characterized by Duane anomaly and radial ray defects. 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. Clinical data were collected from the proband and his family and genomic DNA was extracted from peripheral blood. Whole exome sequencing was performed by high‑throughput sequencing and mutation sites of the proband and his parents were validated by Sanger sequencing. 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. A pathogenic heterozygous c.3060delG variant was identified in exon 4 of spalt‑like transcription factor 4 () gene in the proband. This is a frameshift mutation that changes increases the length of SALL4 protein from 1,053 to 1,076 amino acids. The variant was classed as a mutation because the parents of the proband showed no variation at this site. This variant is not included in the ClinVar database and, to the best of our knowledge, has not previously been reported. The heterozygous c.3060delG variant was the molecular pathological cause of Okihiro syndrome in the present study and expanded the database of known variants.
Topics: China; Duane Retraction Syndrome; Heterozygote; Humans; Mutation; Pedigree; Transcription Factors
PubMed: 35179219
DOI: 10.3892/mmr.2022.12647 -
Indian Journal of Ophthalmology Jul 2022
Topics: Duane Retraction Syndrome; Eye Movements; Humans; Oculomotor Muscles
PubMed: 35791235
DOI: 10.4103/ijo.IJO_2821_21 -
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