Congenital Processes That Cause Incomitant Strabismus

Congenital cranial dysinnervation disorders or CCDDs comprise a group of complex strabismus disorders that result from aberrant innervation or dysinnervation of extraocular muscles. Historically, many CCDDs were thought to be the result of a primary myopathic process that generated incomitant strabismus. Our current understanding, which has been greatly enhanced by the identification of the genetic basis for many of these conditions, is that the underlying etiology for the CCDDs is a primary disruption of innervation of the extraocular muscles with consequent restrictive strabismus.1-3 The ability to recognize the salient clinical features of the CCDDs is essential for appropriate management both non surgical and surgical, for prognosis, and for work up of associated systemic findings when relevant.GVScongenitalsyndromesinvolvingtheextraocularmuscles;  Medical Knowledge; Patient Care; Practice-Based Learning and Improvemen

Non-invasive Assessment of Intracranial Pressure Using Otoacoustic Emissions in Pediatric Patients with Idiopathic Intracranial Hypertension (IIH)

The ability to follow response to treatment with elevated intracranial pressure (ICP) and papilledema are crucial factors in the preservation of visual function in IIH. Current methods of ICP monitoring are invasive. Distortion-product otoacoustic emissions (DPOAEs), measured non-invasively through the ear canal, appear to be sensitive to ICP changes in healthy subjects.1 We evaluated whether changes in DPOAEs correlate with changes in ICP in pediatric patients

Asymptomatic Pediatric Idiopathic Intracranial Hypertension

Pediatric idiopathic intracranial hypertension (IIH) may be identified in patients with clinical symptoms including headache and blurry vision and signs of papilledema on exam. Little is known about the clinical features and outcomes in asymptomatic IIH patients.1, 2 The purpose of this study was to define the clinical features of asymptomatic patients

Identification and characterization of the Drosophila tau homologue

A pathological hallmark of neurodegenerative tauopathies, including Alzheimer\u27s disease and the frontotemporal dementias, is the presence of intracellular neurofibrillary tangles. The principal component of these structures is the microtubule-associated protein (MAP) tau that in these deposits, is abnormally phosphorylated, insoluble and redistributed from the axonal to the somatodendritic compartments of neurons. The identification of mutations in the tau locus in patients with familial frontotemporal dementias has demonstrated that mutations in tau are sufficient to cause neurodegenerative disease. Whether neuronal loss occurs due to the presence of aggregated tau or due to the loss of normal tau activity, or both, still remains unanswered. To address these issues, we have used a complementary approach of loss-of-function and overexpression studies in the genetic model organism Drosophila melanogaster. We present molecular and genetic analysis of a novel Drosophila gene, tau which we have concluded is the homologue of the mammalian MAP tau gene on the basis of sequence homology, phylogenetic data and the apparent molecular weight of the protein. The fly tau protein is expressed in development throughout the CNS and in specific neuronal accessory cells in the PNS called cap cells. In larval and adult stages, we find tau protein in photoreceptor neurons as well as in the nurse and follicle cells of the ovary. Genetic analysis of loss-of-function mutations in the fly tau reveals that fly tau is an essential gene. Our results support distinct roles for tau in normal neuronal development and in adult viability. Homozygous tau mutant flies exhibit neuronal patterning defects of the PNS during embryogenesis. Loss of tau function impairs normal synaptic transmission in larval motor neurons and this may be linked to abnormal locomotor behavior in mutant larvae. Using a targeted overexpression strategy of the human tau protein, we can recapitulate features of tau-related pathology including the accumulation of insoluble, abnormally phosphorylated tau that is associated with cell death. Courtship analysis of these tau transgenic flies reveals a functional impairment of short-term memory. This model system presents a powerful tool for the performance of modifier screens to identify molecules involved in the pathogenesis of tau-induced neurodegeneration

Congenital Processes That Cause Incomitant Strabismus (Video)

Congenital cranial dysinnervation disorders or CCDDs comprise a group of complex strabismus disorders that result from aberrant innervation or dysinnervation of extraocular muscles. Historically, many CCDDs were thought to be the result of a primary myopathic process that generated incomitant strabismus. Our current understanding, which has been greatly enhanced by the identification of the genetic basis for many of these conditions, is that the underlying etiology for the CCDDs is a primary disruption of innervation of the extraocular muscles with consequent restrictive strabismus.1-3 The ability to recognize the salient clinical features of the CCDDs is essential for appropriate management both non surgical and surgical, for prognosis, and for work up of associated systemic findings when relevant.GVScongenitalsyndromesinvolvingtheextraocularmuscles; Medical Knowledge; Patient Care; Practice-Based Learning and Improvemen

Comparison of Optic Nerve Head Parameters using Optical Coherence Tomography to Evaluate Papilledema in Idiopathic Intracranial Hypertension

Optical coherence tomography (OCT) has begun to be utilized as an adjunctive, quantitative tool in the evaluation of patients with idiopathic intracranial hypertension (IIH) to help monitor response to treatment. Focus has primarily been upon the anatomic relationship of retinal nerve fiber layer (RNFL) thickness and its correlation with the clinical appearance of optic nerve edema

Neuro-Ophthalmic Manifestations of Pediatric Neurodegenerative Disease.

The topic of pediatric neurodegenerative disease is broad and ever expanding. Children who suffer from neurodegenerative disease often have concomitant visual dysfunction. Neuro-ophthalmologists may become involved in clinical care to identify corroborating eye findings when a specific condition is suspected, to monitor for disease progression, and in some cases, to assess treatment efficacy. Ophthalmic findings also may be the harbinger of a neurodegenerative process so a keen awareness of the possible manifestations of these conditions is important. The purpose of this review is to highlight common examples of the neuro-ophthalmic manifestations of pediatric neurodegenerative disease using a case-based approach in an effort to provide a framework for approaching these complex patients