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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 -
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 -
Neurology India 2022Cerebral venous sinus thrombosis (CVST) is a life-threatening condition with a predilection for a younger age group. Patients with CVST can have features of raised...
BACKGROUND
Cerebral venous sinus thrombosis (CVST) is a life-threatening condition with a predilection for a younger age group. Patients with CVST can have features of raised intracranial pressure that can be suspected clinically based on ophthalmological findings such as bilateral abduction restriction, papilledema.
CASE DESCRIPTION
A 27-year-old gentleman presented with 15 days history of headache and seizures with complete abduction restriction of both eyes along with retraction of globe and narrowing of palpebral fissure on abduction. His MRI brain showed superior sagittal sinus thrombosis without any parenchymal lesion.
CONCLUSION
The final diagnosis in our case was bilateral inverse Duane's retraction syndrome with CVST, a co-occurrence that has not been reported in the past and can be missed if the eye movements are attributed to raised intracranial pressure alone.
Topics: Male; Humans; Adult; Duane Retraction Syndrome; Eye Movements; Magnetic Resonance Imaging; Neuroimaging; Sagittal Sinus Thrombosis; Sinus Thrombosis, Intracranial
PubMed: 36537432
DOI: 10.4103/0028-3886.364070 -
Case Reports in Ophthalmology 2022Idiopathic intracranial hypertension (IIH) is a poorly understood condition, and its presentation can coexist with other diseases. Simultaneous IIH and Duane retraction...
Idiopathic intracranial hypertension (IIH) is a poorly understood condition, and its presentation can coexist with other diseases. Simultaneous IIH and Duane retraction syndrome (DRS) type 1 have never been reported to coexist in an adult patient. Herein, we report a 32-year-old obese female with a history of chronic renal failure who had a renal transplant rejection 6 years prior to presentation and was treated with oral steroids and immunosuppressive medications. She began to experience signs and symptoms of increased intracranial pressure (morning headache and binocular horizontal diplopia) and had limited abduction of one eye on examination. The case was later diagnosed as IIH with DRS type 1.
PubMed: 35702521
DOI: 10.1159/000524363 -
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 -
Journal of Research in Medical Sciences... 2020Duane's retraction syndrome is a congenital eye movement anomaly with narrowing of the palpebral fissure and globe retraction on attempted adduction. There are several...
Unilateral medial rectus muscle recession combined lateral rectus muscle marginal myotomy for the treatment of Duane's retraction syndrome: A promising surgical procedure.
BACKGROUND
Duane's retraction syndrome is a congenital eye movement anomaly with narrowing of the palpebral fissure and globe retraction on attempted adduction. There are several surgical approaches to treat the narrowing of the palpebral fissure. The purpose of the present study was to evaluate the efficacy of unilateral medial rectus recession (MRR) muscle combined lateral rectus (LR) muscle marginal myotomy (MM) with unilateral MRR alone in the management of narrowing of the palpebral fissure of patients with Type 1 Duane's retraction syndrome (DRS).
MATERIALS AND METHODS
Twenty-eight patients with unilateral DRS Type 1 were randomly divided into two groups (14 eyes of 14 patients in each group). Age ≥5 years with DRS Type 1 with <20 prism diopters in primary position who were candidates for surgery were consecutively enrolled in this randomized controlled trial. Patients were divided into treatment groups to receive unilateral MR recession with simultaneous MM group or with unilateral MR recession alone. The amount of deviation in primary position, abnormal head position, palpebral fissure width (PFW), and up/down shoot was evaluated before and 3 months after the surgery. This study was registered at the Iranian Registry of Clinical Trials under the registration code IRCT20131229015975N3.
RESULTS
PFW increased within MRR/MM group at the end of the study (8.86 ± 1.51) compared with the baseline (7.79 ± 1.48) ( < 0.001). In contrast, in the MRR/MM group, PFW did not increase statistically significantly within the MRR group at the end of the study (8.14 ± 1.35) compared with the baseline (8.07 ± 1.38) ( = 0.67). Mean ± standard deviation of PFW (mm) in MRR/MM group after surgery (8.86 ± 1.51) was statistically significantly higher than that in the MRR group (8.14 ± 1.35), ( = 0.002).
CONCLUSION
The results of our study demonstrate PFW significantly increased after unilateral MRR muscle combined LR muscle MM.
PubMed: 32765624
DOI: 10.4103/jrms.JRMS_836_19 -
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 -
The Journal of Craniofacial Surgery Sep 2019Oculo-auriculo-fronto-nasal syndrome (OAFNS) is a rare anomaly characterized by features overlapping those of frontonasal dysplasia (FND) and the...
Oculo-auriculo-fronto-nasal syndrome (OAFNS) is a rare anomaly characterized by features overlapping those of frontonasal dysplasia (FND) and the oculo-auriculo-vertebral spectrum (OAVS). The FND features malformation of frontonasal process-derived structures, characterized by anomalies in the central portion of the face. The OAVS is characterized by developmental anomalies of the first and second pharyngeal arches. The OAFNS is a condition with clinical features of both FND and OAVS.Here, the authors present the case of a male with OAFNS who not only exhibited typical OAFNS symptoms but also a dysplastic bony structure that bridged the anterior nasal spine and inferior nasal bones, and unilateral type 3 Duane retraction syndrome (absence of right-eye abduction). Abnormal nasal bones are characteristic of OAFNS; such abnormalities are absent from FND and OAVS. The authors reduced the dysplastic nasal bony structure via open external rhinoplasty, followed by lateral nasal osteotomy when he was 16 years of age. The nasal dorsum appeared natural after surgery and he was satisfied with the result.
Topics: Adolescent; Craniofacial Abnormalities; Duane Retraction Syndrome; Face; Humans; Hyperplasia; Male; Nasal Bone; Nose
PubMed: 31756883
DOI: 10.1097/SCS.0000000000005636 -
The Journal of Neuroscience : the... Aug 2021A precise sequence of axon guidance events is required for the development of the ocular motor system. Three cranial nerves grow toward, and connect with, six...
A precise sequence of axon guidance events is required for the development of the ocular motor system. Three cranial nerves grow toward, and connect with, six extraocular muscles in a stereotyped pattern, to control eye movements. The signaling protein alpha2-chimaerin (α2-CHN) plays a pivotal role in the formation of the ocular motor system; mutations in , encoding α2-CHN, cause the human eye movement disorder Duane Retraction Syndrome (DRS). Our research has demonstrated that the manipulation of α2-chn signaling in the zebrafish embryo leads to ocular motor axon wiring defects, although the signaling cascades regulated by α2-chn remain poorly understood. Here, we demonstrate that several cytoskeletal regulatory proteins-collapsin response mediator protein 2 (CRMP2; encoded by the gene ), stathmin1, and stathmin 2-bind to α2-CHN. , , and especially are expressed by ocular motor neurons. We find that the manipulation of and of in zebrafish larvae leads to defects in both the axon wiring of the ocular motor system and the optokinetic reflex, impairing horizontal eye movements. Knockdowns of these molecules in zebrafish larvae of either sex caused axon guidance phenotypes that included defasciculation and ectopic branching; in some cases, these phenotypes were reminiscent of DRS. knock-down phenotypes were rescued by the overexpression of CRMP2 and STMN1, suggesting that these proteins act in the same signaling pathway. These findings suggest that CRMP2 and stathmins signal downstream of α2-CHN to orchestrate ocular motor axon guidance and to control eye movements. The precise control of eye movements is crucial for the life of vertebrate animals, including humans. In humans, this control depends on the arrangement of nerve wiring of the ocular motor system, composed of three nerves and six muscles, a system that is conserved across vertebrate phyla. Mutations in the protein alpha2-chimaerin have previously been shown to cause eye movement disorders (squint) and axon wiring defects in humans. Our recent work has unraveled how alpha2-chimaerin coordinates axon guidance of the ocular motor system in animal models. In this article, we demonstrate key roles for the proteins CRMP2 and stathmin 1/2 in the signaling pathway orchestrated by alpha2-chimaerin, potentially giving insight into the etiology of eye movement disorders in humans.
Topics: Animals; Axon Guidance; Chimerin 1; Duane Retraction Syndrome; Eye Movements; Motor Neurons; Nerve Tissue Proteins; Oculomotor Muscles; Signal Transduction; Stathmin; Zebrafish; Zebrafish Proteins
PubMed: 34168008
DOI: 10.1523/JNEUROSCI.0983-19.2021