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Turkish Journal of Ophthalmology Feb 2023Duane syndrome (DS) is typically characterized by abduction and/or adduction deficiency accompanied by eyelid and ocular motility disturbances. Maldevelopment or absence...
OBJECTIVES
Duane syndrome (DS) is typically characterized by abduction and/or adduction deficiency accompanied by eyelid and ocular motility disturbances. Maldevelopment or absence of the sixth nerve has been shown to be the causative factor. The aim of the present study was to investigate static and dynamic pupillary characteristics in patients with DS and compare the results with those of healthy eyes.
MATERIALS AND METHODS
Patients with unilateral isolated DS and no history of ocular surgery were enrolled in the study. Healthy subjects with a best corrected visual acuity (BCVA) of 1.0 or higher were assigned to the control group. All subjects underwent complete ophthalmological examination and pupillometry measurements (MonPack One, Vision Monitor System, Metrovision, Perenchies, France) including static and dynamic pupil evaluation.
RESULTS
A total of 74 patients (22 with DS and 52 healthy subjects) were included in the study. The mean age of the DS patients and healthy subjects was 11.05±5.19 and 12.54±4.05 years, respectively (p=0.188). There was no difference in sex distribution (p=0.502). Mean BCVA differed significantly between eyes with DS and healthy eyes, and between healthy eyes and the fellow eyes of DS patients (p<0.05). No significant difference was found in any static or dynamic pupillometry parameters (p>0.05 for all).
CONCLUSION
In the light of the results of the present study, the pupil seems to be not involved in DS. Larger studies including more patients with different types of DS in different age groups or comprising patients with non-isolated DS may reveal different findings.
Topics: Humans; Child, Preschool; Child; Adolescent; Duane Retraction Syndrome; Pupil; Eyelids; Eye Movements; Healthy Volunteers
PubMed: 36847629
DOI: 10.4274/tjo.galenos.2022.26460 -
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 -
BMC Medical Genomics Feb 2023SALL4, a member of the SALL genes family, encodes a zinc-finger transcriptional factor that either activates or represses gene transcription depending on cell type...
BACKGROUND
SALL4, a member of the SALL genes family, encodes a zinc-finger transcriptional factor that either activates or represses gene transcription depending on cell type during embryonic development. SALL4 mutations cause extremely variable conditions including Duane-radial ray (DRR), Okihiro, Holt-oram, Acro-renal ocular and IVIC syndromes, all with autosomal dominant inheritance pattern. However, all these syndromes with different terminologies are actually the same entity termed SALL4 related disorders.
CASE PRESENTATION
Herein, we examine an Iranian patient suspected to DRR syndrome which has not been previously described in the population. Whole-exome sequencing (WES) was performed to examine pathogenic genes in the proband. Subsequently, Sanger sequencing was used to confirm the mutation found. To elucidate the effects of the identified mutation, clinical data of patient was collected. Morever, the possible impact of the mutation found on the corresponding protein was evaluated using bioinformatics tools. WES identifed a novel de novo heterozygous nonsense mutation in exon 2 of SALL4 gene (c.712 C > T:p.Q238X). Subsequently, segregation and phenotype-genotype correlation analysis as well as in-silico approaches confirmed the autosomal dominance inheritance and disease-causing nature of the identified mutation. In addition, studied patient had features not described previously, including kyphoscoliosis, dimple presacral sinus, barrel chest and artric disc (C6-C7). These manifestations could be additional characteristics of the growing phenotypic spectrum of SALL4 related disorders.
CONCLUSION
Our findings could extend the pathogenic mutations and phenotypic spectrum of SALL4 related disorders. Such reports can also aid to conduct genetic counseling, prenatal diagnosis and clinical management for individuals at high risk of SALL4 related disorders.
Topics: Humans; Duane Retraction Syndrome; Codon, Nonsense; Iran; Transcription Factors; Mutation; Pedigree
PubMed: 36829172
DOI: 10.1186/s12920-023-01467-1 -
Structure of SALL4 zinc finger domain reveals link between AT-rich DNA binding and Okihiro syndrome.Life Science Alliance Mar 2023Spalt-like 4 (SALL4) maintains vertebrate embryonic stem cell identity and is required for the development of multiple organs, including limbs. Mutations in SALL4 are...
Spalt-like 4 (SALL4) maintains vertebrate embryonic stem cell identity and is required for the development of multiple organs, including limbs. Mutations in SALL4 are associated with Okihiro syndrome, and SALL4 is also a known target of thalidomide. SALL4 protein has a distinct preference for AT-rich sequences, recognised by a pair of zinc fingers at the C-terminus. However, unlike many characterised zinc finger proteins, SALL4 shows flexible recognition with many different combinations of AT-rich sequences being targeted. SALL4 interacts with the NuRD corepressor complex which potentially mediates repression of AT-rich genes. We present a crystal structure of SALL4 C-terminal zinc fingers with an AT-rich DNA sequence, which shows that SALL4 uses small hydrophobic and polar side chains to provide flexible recognition in the major groove. Missense mutations reported in patients that lie within the C-terminal zinc fingers reduced overall binding to DNA but not the preference for AT-rich sequences. Furthermore, these mutations altered association of SALL4 with AT-rich genomic sites, providing evidence that these mutations are likely pathogenic.
Topics: Humans; Duane Retraction Syndrome; Mutation; Transcription Factors; Zinc Fingers
PubMed: 36635047
DOI: 10.26508/lsa.202201588 -
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 -
Orphanet Journal of Rare Diseases Dec 2022Congenital cranial dysinnervation disorders (CCDDs) are a group of diseases with high clinical and genetic heterogeneity. Clinical examinations combined with Magnetic...
BACKGROUND
Congenital cranial dysinnervation disorders (CCDDs) are a group of diseases with high clinical and genetic heterogeneity. Clinical examinations combined with Magnetic resonance imaging (MRI) and whole exome sequencing (WES) were performed to reveal the phenotypic and genotypic characteristics in a cohort of Chinese CCDDs patients.
RESULTS
A total of 122 CCDDs patients from 96 families were enrolled. All patients showed restrictive eye movements, and 46 patients from 46 families (47.9%, 46/96) were accompanied by multiple congenital malformations. Multi-positional high-resolution MRI was performed in 94 patients from 88 families, of which, all patients had hypoplasia of the cranial nerves except HGPPS patients and 15 patients from 15 families (17.0%,15/88) were accompanied by other craniocerebral malformations. WES was performed in 122 CCDDs patients. Ten pathogenic variants were detected in KIF21A, TUBB3, and CHN1 genes in 43 families. Three variants were unreported, including KIF21A (c.1064T > C, p.F355S), TUBB3 (c.232T > A, p.S78T) and CHN1 (c.650A > G, p.H217R). Of the 43 probands harboring pathogenic variants, 42 were diagnosed with Congenital Fibrosis of Extraocular Muscles (CFEOM) and one was Duane Retraction Syndrome (DRS). No definite pathogenic variants in known candidate genes of CCDDs were found in sporadic DRS, Möbius Syndrome (MBS) and Horizontal Gaze Palsy with Progressive Scoliosis (HGPPS) patients. The CFEOM patients harboring R380C, E410K and R262H variants in TUBB3 gene and F355S variant in KIF21A gene exhibited syndromic phenotypes.
CONCLUSIONS
This study broadened the phenotypic and genotypic spectrums of CCDDs, and it was the largest clinical and genetic investigation for CCDDs patients from China. KIF21A and TUBB3 were the common pathogenic genes in Chinese CFEOM. MRI coupled with WES can provide a supportive diagnosis in patients with clinically suspected CCDDs.
Topics: Humans; Congenital Cranial Dysinnervation Disorders; East Asian People; Duane Retraction Syndrome; Mobius Syndrome; Ophthalmoplegia; Fibrosis
PubMed: 36494820
DOI: 10.1186/s13023-022-02582-5 -
Clinical Ophthalmology (Auckland, N.Z.) 2022Abduction limitation in esotropic Duane retraction syndrome (DRS), esotropic Mobius syndrome, and sixth nerve palsy is one of the difficult-to-manage problems in... (Review)
Review
Abduction limitation in esotropic Duane retraction syndrome (DRS), esotropic Mobius syndrome, and sixth nerve palsy is one of the difficult-to-manage problems in strabismus surgery. The procedure of superior rectus transposition (SRT) was introduced by Johnston et al. In this procedure, the superior rectus (SR) muscle is disinserted and sutured adjacent to the insertion of lateral rectus (LR) muscle. The purpose of this review is to explore literature about efficacy and safety of SRT and its usage in strabismus surgery.
PubMed: 36444206
DOI: 10.2147/OPTH.S359313 -
Cureus Oct 2022Duane retraction syndrome (DRS) with mechanical and innervational upshoot poses a surgical challenge. We discuss a case of DRS with mechanical and innervational upshoot...
Duane retraction syndrome (DRS) with mechanical and innervational upshoot poses a surgical challenge. We discuss a case of DRS with mechanical and innervational upshoot and its surgical management. An 11-year-old boy presented with left eye upward deviation since birth. This deviation was worst on the right gaze. His best corrected visual acuity was 6/6 OD and 6/60 OS. Refraction showed low hyperopia with low astigmatism in both eyes. Stereoacuity was absent and there was suppression on the Worth 4 dot test in the left eye. The left eye had large hypertropia of 50 prism diopter in primary gaze. Extraocular movements showed severe upshoot and narrowing of palpebral fissures on adduction and limited abduction (-2). The patient underwent Y-splitting of the left lateral rectus (LR) muscle of 10 mm, LR recession of 4 mm, and left eye superior rectus recession of 12 mm. A marked reduction in hypertropia in primary gaze was observed on day one and at two months postoperatively with residual upshoot on adduction. His left eye deviation remained stable after six months postoperatively.
PubMed: 36415378
DOI: 10.7759/cureus.30470