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The International Journal of... 2009The genes of the spalt (sal) family play fundamental roles during animal development. The two members of this family in Drosophila, spalt (sal) and spalt-related (salr)... (Review)
Review
The genes of the spalt (sal) family play fundamental roles during animal development. The two members of this family in Drosophila, spalt (sal) and spalt-related (salr) encode Zn-finger transcription factors that link the Decapentaplegic (Dpp)/BMP signalling pathway to the patterning of the wing. They are regulated by the Dpp pathway in the wing disc, and they were shown to mediate some of the morphogenetic activities of the Dpp/BMP4 secreted ligand. The sal genes were initially found by virtue of mutations that produce homeotic transformations in the head and tail of the Drosophila embryo. Since then, a number of other requirements have been associated to these genes in Drosophila, including morphogenesis of the respiratory system, cell fate specification of sensory organs and the differentiation of several photoreceptor cells, among others. Vertebrate sal orthologues (spalt-like/sall) have also important developmental roles during neural development and organogenesis, and at least two human sall genes are linked to the genetic diseases Townes Brocks Syndrome (TBS; SALL1 ) and Okihiro Syndrome (OS; SALL4 ). In this review, we will summarize the main characteristics of the sall genes and proteins, pointing out to the similarities in their developmental roles during Drosophila and vertebrate development.
Topics: Animals; DNA-Binding Proteins; Drosophila Proteins; Embryo, Nonmammalian; Homeodomain Proteins; Humans; Organogenesis; Repressor Proteins; Transcription Factors; Xenopus Proteins
PubMed: 19247946
DOI: 10.1387/ijdb.072408jd -
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 -
International Journal of Ophthalmology 2020To study the different treatment modalities needed in cases of Duane's Retraction Syndrome (DRS).
AIM
To study the different treatment modalities needed in cases of Duane's Retraction Syndrome (DRS).
METHODS
This prospective study undergone in more than four years, in Alexandria, included 238 patients of DRS, including type I, 162 patients (68%), type II 12 patients (5%) and type III 64 patients (27%). Surgery was indicated in 98 (41%) of them, to eliminate abnormal head posture, deviation of the eye in primary position, severe retraction of the globe or cosmetically unacceptable upshoot with attempted adduction.
RESULTS
Type I was the most common and type II was the least. Females were predominant in this study, constituting 125 patients (52.5%), and males 113 patients (47.5%). Left eye was more affected, in 110 patients (46.2%), right eye in 91 patients (38.2%) and bilateral in 37 patients (15.6%). Amblyopia was found in 27 patients (11.3%) and treated in 13 patients under 10 years of age, by patching the normal eye. Ninety-eight patients (41%) were operated, the results were most satisfactory and a nomogram is followed in the surgical plan.
CONCLUSION
The surgical management is needed in less than half of the cases and should be planned for every case individually according to the clinical findings, planned nomogram and modified intraoperatively according to the anatomical findings during surgery.
PubMed: 32090038
DOI: 10.18240/ijo.2020.02.12 -
Transactions of the American... 2008Congenital aberrant tearing is characterized by tearing when eating ("crocodile tears"), lack of emotional tearing, or both. Most reported cases are associated with... (Review)
Review
PURPOSE
Congenital aberrant tearing is characterized by tearing when eating ("crocodile tears"), lack of emotional tearing, or both. Most reported cases are associated with Duane syndrome. In our previous studies we observed aberrant tearing in individuals with thalidomide embryopathy and Möbius sequence. This report summarizes the literature on the subject and adds 3 new studies that give information on this unusual condition.
METHODS
Twenty-eight individuals with Möbius sequence were interviewed about tearing symptoms at a support group meeting in Italy. In Sweden 30 adults primarily from the original thalidomide series were reexamined. In this latter study, a Schirmer test was done at baseline and repeated 5 minutes after eating. Twenty families in Brazil who have children with Möbius sequence were questioned about tearing symptoms and exposure to misoprostol during pregnancy.
RESULTS
In the 28 Italian individuals, either "crocodile tears" or lack of emotional tearing was noted in 7 cases. In the thalidomide study, 10 of 30 patients had tearing when eating and 7 had no emotional tearing. Low Schirmer scores or increased tearing after eating was noted in a few asymptomatic individuals. Among the 20 Brazilian children with Möbius sequence, 10 had some tearing abnormality.
CONCLUSION
Congenital anomalous lacrimation is rare but usually associated with Duane syndrome or abduction deficits, as in Möbius sequence and, less frequently, facial nerve palsy. Studies implicate an early insult in development at 4 to 6 weeks. At that time the facial nerve, sixth nerve, and lacrimal nucleus are in close proximity in the embryo.
Topics: Abnormalities, Drug-Induced; Duane Retraction Syndrome; Eye Abnormalities; Female; Humans; Lacrimal Apparatus; Lacrimal Apparatus Diseases; Male; Middle Aged; Mobius Syndrome; Retrospective Studies; Surveys and Questionnaires; Tears; Thalidomide
PubMed: 19277226
DOI: No ID Found -
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 -
Journal of AAPOS : the Official... Apr 2021Orbital myositis is a rare, commonly idiopathic, inflammatory condition that affects one or more extraocular muscles. We present a case of unilateral orbital myositis...
Orbital myositis is a rare, commonly idiopathic, inflammatory condition that affects one or more extraocular muscles. We present a case of unilateral orbital myositis affecting the lateral rectus muscle presenting with gaze-evoked amaurosis, pain, and diplopia, with restrictive limitation of adduction. With improvement in adduction after initiating treatment, we noted narrowing of the palpebral fissure on attempted adduction, mimicking Duane retraction syndrome (DRS). Reported cases of "pseudo-DRS" are associated with multiple etiologies and are characterized by retraction on attempted abduction rather than adduction, as occurs in true DRS. In this case, pseudo-DRS occurred in the setting of idiopathic orbital inflammatory syndrome (orbital myositis) with a motility pattern more consistent with true DRS.
Topics: Diplopia; Duane Retraction Syndrome; Eyelids; Humans; Oculomotor Muscles; Orbital Myositis
PubMed: 33652102
DOI: 10.1016/j.jaapos.2020.11.012 -
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 -
Seminars in Ophthalmology 2013In recent years, our understanding of the genetic foundations of incomitant strabismus has grown significantly. Much new understanding has been gleaned since the concept... (Review)
Review
In recent years, our understanding of the genetic foundations of incomitant strabismus has grown significantly. Much new understanding has been gleaned since the concept of congenital cranial dysinnervation disorders (CCDDs) was introduced in 2002, and the genetic basis of CCDDs continues to be elucidated. In this review, we aim to provide an update of the genetic and clinical presentation of these disorders. Disorders reviewed include Duane syndrome (DS), HOXA1 and HOXB1 syndromes, Moebius syndrome, congenital fibrosis of the extraocular muscles (CFEOM), and horizontal gaze palsy with progressive scoliosis (HGPPS).
Topics: Duane Retraction Syndrome; Eye Diseases, Hereditary; Fibrosis; Homeodomain Proteins; Humans; Mobius Syndrome; Ophthalmoplegia; Ophthalmoplegia, Chronic Progressive External; Scoliosis; Strabismus; Transcription Factors
PubMed: 24138051
DOI: 10.3109/08820538.2013.825288 -
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 -
Clinical Genetics Aug 2014Eye misalignment, called strabismus, is amongst the most common phenotypes observed, occurring in up to 5% of individuals in a studied population. While misalignment is... (Review)
Review
Eye misalignment, called strabismus, is amongst the most common phenotypes observed, occurring in up to 5% of individuals in a studied population. While misalignment is frequently observed in rare complex syndromes, the majority of strabismus cases are non-syndromic. Over the past decade, genes and pathways associated with syndromic forms of strabismus have emerged, but the genes contributing to non-syndromic strabismus remain elusive. Genetic testing for strabismus risk may allow for earlier diagnosis and treatment, as well as decreased frequency of surgery. We review human and model organism literature describing non-syndromic strabismus, including family, twin, linkage, and gene expression studies. Recent advances in the genetics of Duane retraction syndrome are considered, as relatives of those impacted show elevated familial rates of non-syndromic strabismus. As whole genome sequencing efforts are advancing for the discovery of the elusive strabismus genes, this overview is intended to support the interpretation of the new findings.
Topics: Animals; Disease Models, Animal; Duane Retraction Syndrome; Genetic Linkage; Humans; Risk Factors; Strabismus; Twin Studies as Topic
PubMed: 24579652
DOI: 10.1111/cge.12367