The Genetic Basis of Complex Strabismus

Engle, Elizabeth C.

doi:10.1203/01.pdr.0000200797.91630.08

Cited by 82 publications

(46 citation statements)

References 35 publications

(30 reference statements)

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“…Otx and FoxB might inhibit Hox1 expression in the forebrain via Cyp26, whereas Pax2/5/8-A might coordinate the expression of the regulatory genes required for the differentiation of metencephalon motoneurons, such as Phox2a/Arix (e.g. Engle, 2006). Finally, although the regulatory genes responsible for the compartmentalization of the vertebrate CNS (e.g.…”

Section: Discussionmentioning

confidence: 99%

Gene regulatory networks underlying the compartmentalization of theCionacentral nervous system

et al. 2009

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The tripartite organization of the central nervous system (CNS) may be an ancient character of the bilaterians. However, the elaboration of the more complex vertebrate brain depends on the midbrain-hindbrain boundary (MHB)organizer, which is absent in invertebrates such as Drosophila. The Fgf8 signaling molecule expressed in the MHB organizer plays a key role in delineating separate mesencephalon and metencephalon compartments in the vertebrate CNS. Here, we present evidence that an Fgf8 ortholog establishes sequential patterns of regulatory gene expression in the developing posterior sensory vesicle, and the interleaved `neck' region located between the sensory vesicle and visceral ganglion of the simple chordate Ciona intestinalis. The detailed characterization of gene networks in the developing CNS led to new insights into the mechanisms by which Fgf8/17/18 patterns the chordate brain. The precise positioning of this Fgf signaling activity depends on an unusual AND/OR network motif that regulates Snail, which encodes a threshold repressor of Fgf8expression. Nodal is sufficient to activate low levels of the Snail repressor within the neural plate, while the combination of Nodal and Neurogenin produces high levels of Snailin neighboring domains of the CNS. The loss of Fgf8 patterning activity results in the transformation of hindbrain structures into an expanded mesencephalon in both ascidians and vertebrates, suggesting that the primitive MHB-like activity predates the vertebrate CNS.

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Section: Discussionmentioning

confidence: 99%

Gene regulatory networks underlying the compartmentalization of theCionacentral nervous system

et al. 2009

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“…3 It has a 2-7% prevalence in children, [2][3][4][5] and presents typically from the ages of one to four. 6 Neonatal misalignment resolves mostly by the age of three months, and after that it is considered abnormal.…”

Section: Strabismus and Strabismus Surgerymentioning

confidence: 99%

“…3 Le strabisme est prévalent chez 2-7 % des enfants 2-5 et se manifeste en général entre un et quatre ans. 6 Le mauvais alignement présent chez les nouveau-nés se résout la plupart du temps avant l'âge de trois mois; après cela, il est considéré comme anormal.…”

Section: Le Strabisme Et La Chirurgie Du Strabismeunclassified

Anesthetic management for pediatric strabismus surgery: Continuing Professional Development

Rodgers

Cox

2010

Can J Anesth/J Can Anesth

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Purpose Strabismus surgery is one of the most common pediatric ophthalmic procedures. The purpose of this continuing professional development module is to update physicians on the anesthetic considerations of pediatric patients undergoing strabismus surgery. Principal findings The preoperative assessment is important, as patients undergoing strabismus surgery may have an associated neuromuscular disorder, congenital syndrome, or cardiac disease. Malignant hyperthermia is no longer considered as being an issue associated with strabismus. The laryngeal mask airway is used frequently and has been shown as being associated with a low incidence of complications in strabismus surgery. The anesthesia technique can be adapted to decrease the incidence of the oculocardiac reflex and the oculorespiratory reflex, and the use of anticholinergic prophylaxis remains debatable. Since patients are at high risk for postoperative nausea and vomiting (PONV), combination anti-emetic therapy is recommended using dexamethasone and ondansetron. Metoclopramide was not found to provide additional benefit when combined with other anti-emetics. Droperidol is effective, but there remains a black box warning for dysrhythmias. Effective analgesics in this patient population include acetaminophen, nonsteroidal anti-inflammatory drugs, peribulbar blocks, and subtenon blocks. Topical tetracaine drops have demonstrated mixed results, and topical nonsteroidal anti-inflammatory drops were found not to be effective. The use of opioids should be minimized due to the increased incidence of PONV. Conclusions To provide optimal care for the pediatric patient undergoing strabismus surgery, it is important to understand the unique anesthetic considerations for strabismus surgery and to appreciate how each decision regarding the anesthetic technique can alter these considerations. Objectives of this continuing professional development (CPD) moduleUpon completion of this CPD module, the reader will be able to:1 Perform a thorough preoperative assessment with an emphasis on the co-existing diseases and syndromes with ocular manifestations; 2. Evaluate the possibility of an increased incidence of masseter muscle spasm or malignant hyperthermia in this patient group; 3. Detail an anesthetic plan for strabismus surgery, including airway management and choice of anesthetic agents; 4. Understand the mechanism of the oculocardiac and the oculorespiratory reflex and recognize the associated risk factors and treatment; 5. Determine the analgesia options for strabismus surgery; and 6. Plan evidence-based anti-emetic prophylaxis for strabismus surgery. Summary reviewStrabismus surgery is the most common pediatric ophthalmic procedure. 1,2 The purpose of this continuing professional development module is to review the unique anesthetic issues facing a patient presenting for strabismus surgery. It is important to be aware of specific issues, such as the association with specific syndromes and diseases, the occurrence of the oculocardiac reflex, and the increas...

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“…1 The CCDDs share common clinical and/or pathophysiological findings including hypoplasia/ absence of one or more cranial nerves, synkinetic eye movements and restrictions or under-actions of one or more extraocular muscles, 2,3 with genetic abnormalities in many. 4 This group of strabismus disorders includes Duane's retraction syndrome (DRS), monocular elevation deficiency (MED), Moebius syndrome, congenital fibrosis syndrome of the extraocular muscles (CFEOMs), 5 and some cases of congenital superior oblique palsy 6 and of Brown's syndrome. 7 These alignment abnormalities can compromise visual acuity and the field of binocular single vision, and result in persistently poor ocular alignment and potential secondary psychosocial symptoms.…”

Section: Introductionmentioning

confidence: 99%

Successful alignment following multiple surgeries in a child with severe esotropia and a congenital cranial dysinnervation disorder

Gratton¹,

Burke

2014

British and Irish Orthoptic Journal

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Aim: To report the alignment, visual outcome and surgical strategy for severe bilateral congenital esotropia caused by a congenital cranial dysinnervation disorder (CCDD). This was successfully treated with a combination of interventions that included alternate occlusion, botulinum toxin, and conventional and augmented transposition procedures. Methods: A girl presented at 2 months of age with a marked esotropia and severe bilateral impairment of abduction of both eyes, and an inability to fix with either eye in the primary position. Her investigation and treatment are described. Results: The patient initially underwent alternate daily occlusion to prevent the development of amblyopia, followed by simultaneous bilateral medial rectus (MR) botulinum toxin and large bilateral MR recessions based on pre-operative forced duction testing (FDT). This operation was performed at 1 year of age with the aim of releasing the tight MR and reducing the esotropia. After initial improvement, the impairment of abduction gradually increased over the next month. She subsequently underwent sequential inferior oblique myectomy and augmented transposition procedures, which enabled her to fix in the primary position with either eye and with a small-angle esotropia. Conclusion: Substantial improvement in the alignment of the eyes in a child with a complex congenital esotropia secondary to a CCDD is achievable.

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The Genetic Basis of Complex Strabismus

Cited by 82 publications

References 35 publications

Gene regulatory networks underlying the compartmentalization of theCionacentral nervous system

Gene regulatory networks underlying the compartmentalization of theCionacentral nervous system

Anesthetic management for pediatric strabismus surgery: Continuing Professional Development

Successful alignment following multiple surgeries in a child with severe esotropia and a congenital cranial dysinnervation disorder

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