-
Saudi Journal of Ophthalmology :... 2021Consecutive exotropia is considered as a rare complication after medial rectus recession that is performed for cases of esotropic Duane syndrome. Here, we present a case...
Consecutive exotropia is considered as a rare complication after medial rectus recession that is performed for cases of esotropic Duane syndrome. Here, we present a case of 5-year-old female initially presented with the limitation of abduction, narrowing of the palpebral fissure, and globe retraction of the left eye along with a mild left face turn. She was diagnosed with Duane syndrome Type 1. She was treated with the medial rectus recession (6.5 mm). Postsurgery, she developed a consecutive exotropia. This was managed successfully with the ipsilateral lateral rectus recession (8 mm). Following this surgery, the patient was orthoptic in the primary position and her abnormal head posture was markedly improved.
PubMed: 35391814
DOI: 10.4103/1319-4534.337851 -
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 -
Journal of Current Ophthalmology 2021To provide a comprehensive review on different characteristics of abnormal head postures (AHPs) due to different ocular causes, its measurement, and its effect on facial... (Review)
Review
PURPOSE
To provide a comprehensive review on different characteristics of abnormal head postures (AHPs) due to different ocular causes, its measurement, and its effect on facial appearance.
METHODS
In this review article, PubMed, Scopus, and Google Scholar search engines were searched for the scientific articles and books published between 1975 and September 2020 based on the keywords of this article. The selected articles were collected, summarized, classified, evaluated, and finally concluded.
RESULTS
AHP can be caused by various ocular or nonocular diseases. The prevalence of ocular causes of AHP was reported to be 18%-25%. 1.1% of patients presenting to ophthalmology clinics has AHP. The first step in evaluating a patient with AHP is a correct differential diagnosis between nonocular and ocular sources by performing comprehensive eye examinations and ruling out other causes of orthopedic and neurological AHP. Ocular AHP occurs for a variety of reasons, the most important of which include nystagmus, superior oblique palsy, and Duane's retraction syndrome. AHP may be an essential clinical sign for an underlying disease, which can only be appropriately treated by the accurate determination of the cause. Long-standing AHP may lead to facial asymmetry and secondary muscular and skeletal changes.
CONCLUSION
In conclusion, a proper differential diagnosis between nonocular and ocular causes, knowledge of the different forms of AHP and their measurement methods, accurate diagnosis of the cause, and proper and timely treatment of ocular AHP can prevent facial asymmetry and secondary muscular and skeletal changes in the patients.
PubMed: 35128182
DOI: 10.4103/joco.joco_114_20 -
Clinical Ophthalmology (Auckland, N.Z.) 2022Various surgical approaches have been described for the management of Duane retraction syndrome (DRS), a type of congenital cranial dysinnervation disorder (CCDD), the... (Review)
Review
Various surgical approaches have been described for the management of Duane retraction syndrome (DRS), a type of congenital cranial dysinnervation disorder (CCDD), the goals of which include correcting the primary position deviation and abnormal head posture (AHP), minimizing globe retraction and overshoots and improving the ocular rotations. Vertical rectus transposition (VRT) is one such technique, found more effective in improving abduction and thereby expanding the field of binocular vision, as compared to horizontal muscle surgery. VRT, however, is associated with the risk of inducing vertical deviations and also poses a risk for development of anterior segment ischemia. To overcome these concerns, transposition of only the superior rectus to the lateral rectus was proposed and evaluated to reveal improvement in alignment, AHP and motility comparable to VRT but with lesser surgical time and fewer post-operative complications. With promising results in the management of DRS, superior rectus transposition (SRT) has been extensively studied and has evolved over the last decade with several modifications to further increase the efficiency and reduce the risk of post-operative complications. This article focusses on the pre-operative considerations while planning SRT in DRS, various approaches and surgical techniques described, and the outcomes and complications of SRT in DRS. The role of SRT in the management of other CCDDs may be explored with further studies.
PubMed: 35115760
DOI: 10.2147/OPTH.S284608 -
Canadian Journal of Ophthalmology.... Jun 2023To determine the effect of botulinum toxin in different types of strabismus and analyze its dose effect.
OBJECTIVE
To determine the effect of botulinum toxin in different types of strabismus and analyze its dose effect.
DESIGN
This was an interventional clinical study performed in a tertiary care university hospital.
METHODS
Eighty six patients treated with botulinum toxin for strabismus were included. Main outcome measures involved success of botulinum toxin, alignment change per unit of toxin, and dose effect on complications and outcomes.
RESULTS
Success rates were 31% for infantile esotropia, 25% for partially accommodative esotropia, 61.5% for residual esotropia, 25% for third cranial nerve paralysis, 13.3% for sixth cranial nerve paralysis, 75% for Duane retraction syndrome, and 38.5% for nonaccomodative esotropia. Improvement in deviation size after botulinum toxin treatment was significant in patients with infantile esotropia (p = 0.001), residual esotropia (p = 0.001), and nonaccomodative esotropia (p = 0.03). Mean deviation change per 1 unit of toxin was 2.7 ± 2.4 prism diopters (PD) with a single injection and 2.1 ± 1.9 PD with multiple injections. A 3.32 PD of early deviation change with botulinum toxin corrected 1 PD of final deviation. Success rate was not correlated with age (r = 0.040, p = 0.8), sex (r = -0.083, p = 0.6), mean dose (r = -0.149, p = 0.35), or total dose (r = 0.165, p = 0.29) but was significantly correlated with deviation size (β = -0.077, p = 0.0001). Complications were not associated with the dose of botulinum toxin (p > 0.05).
CONCLUSIONS
Botulinum toxin has variable outcomes in different types of strabismus. Still, it reduces the deviation size in most patients, thus allowing for a smaller amount of subsequent muscle surgery. Early overcorrection is a more powerful indicator of better outcome than postinjection duction deficit.
Topics: Humans; Esotropia; Botulinum Toxins, Type A; Oculomotor Muscles; Strabismus; Paralysis; Treatment Outcome
PubMed: 35038409
DOI: 10.1016/j.jcjo.2021.12.002 -
Vestnik Oftalmologii 2021To analyze the use of bifurcation of the lateral rectus muscle (LRM) in the surgical treatment of Duane syndrome (DS) in children.
PURPOSE
To analyze the use of bifurcation of the lateral rectus muscle (LRM) in the surgical treatment of Duane syndrome (DS) in children.
MATERIAL AND METHODS
The analysis of surgical treatment involved 12 children with paralytic strabismus at the age of 8 to 17. The following research methods were conducted for all patients: the study of eye motility in different directions of gaze, the study of eyes position and the degree of deviation in different positions of gaze, the Bielschowsky test, the Park's three-step test, determination of the nature of torticollis, the forcing test - intraoperative forceps test, multislice computed tomography (MSCT) of the head and orbit, ultrasonography of the oculomotor muscles. All study children underwent bifurcation (Y-cleavage procedure) of LRM with recession in exo-DS in 17% of cases, without recession in eso-DS - 83% of cases, respectively.
RESULTS
In all operated patients with Duane syndrome, the direction of LRM was compensated (downshoot and upshoot were eliminated). In a direct gaze, the correct position was achieved in 10 (83%) cases, in 2 (17%) the residual angle of up to 10 PD remained, and torticollis was eliminated in 9 (75%) patients.
CONCLUSION
The method of LRM bifurcation - the procedure of dividing the muscle into two portions and changing its primary localization, accompanied by abnormalities (presence of deviation, retraction, anomalous vertical movements, limited ocular motility, etc.), - helps compensate for them, and provides cosmetic as well as functional improvement.
Topics: Child; Duane Retraction Syndrome; Humans; Oculomotor Muscles; Ophthalmologic Surgical Procedures; Retrospective Studies; Treatment Outcome; Vision, Binocular
PubMed: 34965065
DOI: 10.17116/oftalma202113706133 -
Clinical Genetics Mar 2022
Topics: Duane Retraction Syndrome; Ear, Inner; Humans; MafB Transcription Factor; Pedigree; Phenotype
PubMed: 34964110
DOI: 10.1111/cge.14101 -
Journal of Neuro-ophthalmology : the... Mar 2024
Topics: Humans; Duane Retraction Syndrome; Eye Abnormalities; Abnormalities, Multiple; Kidney Diseases, Cystic; Retina; Cerebellum; Oculomotor Muscles
PubMed: 34924526
DOI: 10.1097/WNO.0000000000001398 -
Genes Oct 2021Biallelic truncating variants result in cilia dysfunction and have been reported in four infants with Joubert syndrome and orofaciodigital syndrome type VI,...
Biallelic truncating variants result in cilia dysfunction and have been reported in four infants with Joubert syndrome and orofaciodigital syndrome type VI, respectively. We report here on three adult siblings, 18 to 40 years of age, homozygous for the known c.354_357delinsCACTC (p.Gln118Hisfs*20) variant. Detailed clinical examinations were performed including ocular and gait analyses, skeletal- and neuroimaging. All three patients presented with neurological and oculomotor symptoms since birth and mild skeletal dysplasia in infancy resulting in characteristic gait abnormalities. We document mild skeletal dysplasia, abnormal gait with increased hip rotation and increased external foot rotation, ataxia, variable polydactyly, ocular Duane syndrome, progressive ophthalmoplegia, nystagmus, situs inversus of the retinal vessels, olfactory bulb aplasia, and corpus callosal dysgenesis as novel features in -ciliopathy. We show that intellectual disability is mild to moderate and retinal, renal and liver function is normal in these affected adults. Our study thus expands the -related Joubert syndrome to a mainly neurological and skeletal ciliopathy phenotype with predominant oculomotor dysfunction but otherwise stable outcome in adults. Diagnosis of -related disorder was impeded by segregation of multiple neurogenetic disorders in the same family, highlighting the importance of extended clinical and genetic studies in families with complex phenotypes.
Topics: Abnormalities, Multiple; Adolescent; Adult; Cerebellum; Ciliopathies; Consanguinity; Cytoskeletal Proteins; Duane Retraction Syndrome; Eye Abnormalities; Female; Humans; Kidney Diseases, Cystic; Male; Nervous System Malformations; Phenotype; Retina; Saudi Arabia; Siblings; Young Adult
PubMed: 34828254
DOI: 10.3390/genes12111648 -
The Journal of Pediatrics Oct 2021
Topics: Child, Preschool; Duane Retraction Syndrome; Eye Movements; Female; Humans; Oculomotor Muscles; Symptom Assessment
PubMed: 34181991
DOI: 10.1016/j.jpeds.2021.06.044