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Manu Saini, Pradeep Sharma, Nripen Gaur, Jagjeet Singh
No abstract text is available yet for this article.
November 9, 2017: BMJ Case Reports
Mary C Whitman, Elizabeth C Engle
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...
August 1, 2017: Human Molecular Genetics
Ronak M Patel, David Liu, Claudia Gonzaga-Jauregui, Shalini Jhangiani, James T Lu, V Reid Sutton, Susan D Fernbach, Mahshid Azamian, Lisa White, Jane C Edmond, Evelyn A Paysse, John W Belmont, Donna Muzny, James R Lupski, Richard A Gibbs, Richard Alan Lewis, Brendan H Lee, Seema R Lalani, Philippe M Campeau
Moebius syndrome is characterized by congenital unilateral or bilateral facial and abducens nerve palsies (sixth and seventh cranial nerves) causing facial weakness, feeding difficulties, and restricted ocular movements. Abnormalities of the chest wall such as Poland anomaly and variable limb defects are frequently associated with this syndrome. Most cases are isolated; however, rare families with autosomal dominant transmission with incomplete penetrance and variable expressivity have been described. The genetic basis of this condition remains unknown...
March 2017: Cold Spring Harbor Molecular Case Studies
Jingchang Chen, Qingqing Ye, Daming Deng, Jianhua Yan, Houbian Lin, Tao Shen, Ying Lin
Congenital fibrosis of the extraocular muscles (CFEOM) is a hereditary ocular disease and can be classified into three subtypes. The aim of the present study was to determine the genetic basis and describe the clinical phenotype of CFEOM type 1 and 3. Two Chinese families with CFEOM type 1 and 3 were identified. The patients and their family members were subjected to comprehensive ophthalmic examinations, including best‑corrected visual acuity, slit‑lamp examination, fundus examination, assessment of palpebral fissure size, levator function, ocular motility, and cover and forced duction tests...
October 2016: Molecular Medicine Reports
Mary C Whitman, Caroline Andrews, Wai-Man Chan, Max A Tischfield, Steven F Stasheff, Francesco Brancati, Xilma Ortiz-Gonzalez, Sara Nuovo, Francesco Garaci, Sarah E MacKinnon, David G Hunter, P Ellen Grant, Elizabeth C Engle
One set of missense mutations in the neuron specific beta tubulin isotype 3 (TUBB3) has been reported to cause malformations of cortical development (MCD), while a second set has been reported to cause isolated or syndromic Congenital Fibrosis of the Extraocular Muscles type 3 (CFEOM3). Because TUBB3 mutations reported to cause CFEOM had not been associated with cortical malformations, while mutations reported to cause MCD had not been associated with CFEOM or other forms of paralytic strabismus, it was hypothesized that each set of mutations might alter microtubule function differently...
February 2016: American Journal of Medical Genetics. Part A
Ayşe Kaçar Bayram, Hüseyin Per, Jennifer Quon, Mehmet Canpolat, Ege Ülgen, Hakkı Doğan, Hakan Gumus, Sefer Kumandas, Nurettin Bayram, Kaya Bilguvar, Ahmet Okay Çağlayan
BACKGROUND: Congenital fibrosis of the extraocular muscles (CFEOM1) is classically a congenital, non-progressive, restrictive strabismus syndrome characterized by bilateral ptosis and ophthalmoplegia with an infraducted position of the globes. This autosomal dominant syndrome is caused by mutations in the KIF21A gene. METHODS AND RESULTS: In this report we describe a 5-year-old boy, and his mother, both of whom have a mutation in the KIF21A gene, who possesses typical features of CFEOM1 syndrome...
November 2015: European Journal of Paediatric Neurology: EJPN
M M Nentwich, M F Nentwich, J Maertz, U Brandlhuber, G Rudolph
Knowledge about hereditary eye diseases has been substantially increased by means of genetic testing during the last decade. This has resulted in a new classification of a number of disease patterns, which are characterised by non-progressive restrictive disorders of the oculomotor system, formerly classified as "congenital fibrosis syndromes". Based on the results of genetic testing, these ocular motility disorders are now referred to as "congenital cranial dysinnervation disorders" (CCDDs). They are caused by an impaired innervation of extraocular muscles because of a dysgenesis of the nuclei of the affected cranial nerves in the brainstem and pons and not by primary fibrosis of the extraocular muscles...
March 2015: Klinische Monatsblätter Für Augenheilkunde
Ravikumar Balasubramanian, Sheena Chew, Sarah E MacKinnon, Peter B Kang, Caroline Andrews, Wai-Man Chan, Elizabeth C Engle
CONTEXT: A heterozygous de novo c.1228G>A mutation (E410K) in the TUBB3 gene encoding the neuronal-specific β-tubulin isotype 3 (TUBB3) causes the TUBB3 E410K syndrome characterized by congenital fibrosis of the extraocular muscles (CFEOM), facial weakness, intellectual and social disabilities, and Kallmann syndrome (anosmia with hypogonadotropic hypogonadism). All TUBB3 E410K subjects reported to date are sporadic cases. OBJECTIVE: This study aimed to report the clinical, genetic, and molecular features of a familial presentation of the TUBB3 E410K syndrome...
March 2015: Journal of Clinical Endocrinology and Metabolism
Emin Cumhur Sener, Hande Taylan Sekeroglu, Ozlem Ural, Banu Turgut Oztürk, Ali Sefik Sanaç
BACKGROUND: Congenital fibrosis of extraocular muscles (CFEOM) is a rare group of disorders with variable phenotypes that result from aberrant innervation to the EOMs leading to synergistic vertical and/or horizontal deviations. We report our experience with the surgical management of patients with CFEOM. MATERIALS AND METHODS: We reviewed the clinical findings, the surgical management, and outcomes of 52 consecutive CFEOM patients operated by one surgeon at a university hospital setting between 1993 and 2014...
December 2014: Ophthalmic Genetics
Zahra Ali, Chao Xing, Didar Anwar, Kamel Itani, David Weakley, Xin Gong, Juan M Pascual, V Vinod Mootha
PURPOSE: To describe the phenotypic characteristics and clinical course of a sporadic case of congenital fibrosis of the extraocular muscles (CFEOM) and Möbius syndrome with a de novo mutation in the KIF21A gene encoding a kinesin motor protein. METHODS: An individual with the rare combination of CFEOM and Möbius syndrome underwent comprehensive ophthalmologic and neurological evaluations. Magnetic resonance imaging (MRI) including diffusion tensor imaging (DTI) tractigraphy at 3T field strength was used to evaluate orbital, encephalic, and intracranial nerve integrity...
2014: Molecular Vision
Long Cheng, Jigar Desai, Carlos J Miranda, Jeremy S Duncan, Weihong Qiu, Alicia A Nugent, Adrianne L Kolpak, Carrie C Wu, Eugene Drokhlyansky, Michelle M Delisle, Wai-Man Chan, Yan Wei, Friedrich Propst, Samara L Reck-Peterson, Bernd Fritzsch, Elizabeth C Engle
The ocular motility disorder "Congenital fibrosis of the extraocular muscles type 1" (CFEOM1) results from heterozygous mutations altering the motor and third coiled-coil stalk of the anterograde kinesin, KIF21A. We demonstrate that Kif21a knockin mice harboring the most common human mutation develop CFEOM. The developing axons of the oculomotor nerve's superior division stall in the proximal nerve; the growth cones enlarge, extend excessive filopodia, and assume random trajectories. Inferior division axons reach the orbit but branch ectopically...
April 16, 2014: Neuron
Jun-tao Zhang, Lian-hong Zhou, Yun-fei Zha, Tian Liu, Ming-xing Tian, Jing Yuan, Yi-qiao Xing
OBJECTIVE: To identify TUBB3 gene mutations in a Chinese family with congenital fibrosis of the extraocular muscle associated with corpus callosum agenesis. METHODS: We have found a family with CFEOM associated with corpus callosum agenesis, including 4 affected individuals in three generations of 11 familial members. 4 affected individuals were sequenced by direct TUBB3 sequencing, 4 unaffected individuals in the family and 100 cases of unrelated normal person as a control...
July 2013: [Zhonghua Yan Ke za Zhi] Chinese Journal of Ophthalmology
Carolyn P Graeber, David G Hunter, Elizabeth C Engle
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)...
September 2013: Seminars in Ophthalmology
Pilar Merino, Pilar Gómez de Liaño, Hideki Fukumitsu, Gema Franco, Yolanda Ruiz
PURPOSE: We analyzed findings of orbital and cranial magnetic resonance imaging (MRI) in patients with congenital fibrosis of the extraocular muscles (CFEOM). We described surgery and its outcome. MATERIAL AND METHOD: Nine out of 10 patients with clinical findings of CFEOM underwent orbital and cranial MRI to perform a study of the extraocular muscles and cranial nerves. A multimodality workstation platform developed by the imaging laboratory of our hospital for PC computer allowed us to visualize and measure the cross sections of the extraocular muscles in a coronal section...
September 2013: Strabismus
H M Luk, Ivan F M Lo, Carmen W S Lai, Louis C K Ma, Tony M F Tong, Daniel H C Chan, Stephen T S Lam
With the advancement of ophthalmological genetics, the molecular basis for more and more eye diseases can be elucidated. Congenital fibrosis of extraocular muscle (CFEOM) is an example. It is characterised by a congenital non-progressive restrictive ophthalmoplegia and ptosis. It is an autosomal dominant disease, caused by mutations of the KIF21A gene. With positive family history and typical ophthalmological findings, mutational analysis of KIF21A gene should be performed, not only to confirming the diagnosis, but also to offer a prognosis, for genetic counselling, and the possibility of prenatal diagnosis...
April 2013: Hong Kong Medical Journal, Xianggang Yi Xue za Zhi
Ning-dong Li, Jun Zhao, Li-ming Wang, Xia Chen, Hui-zhi Ma, Li-na Zhu, Xin Guo, Kan-xing Zhao
OBJECTIVE: Screening KIF21A gene mutation in 9 families with congenital fibrosis of extraocular muscles and 7 sporadic cases. METHODS: Families were ascertained and patients underwent complete ophthalmological examinations. The probands of 9 families with CFEOM and 7 sporadic patients were recruited for this study after informed consent. Genomic DNA was isolated from 5 ml peripheral blood samples according to the standard methods. Direct sequencing was performed after PCR amplification to genomic DNA for detection of KIF21A gene mutation...
December 2012: [Zhonghua Yan Ke za Zhi] Chinese Journal of Ophthalmology
Hatem A Tawfik, Mohammad A Rashad
PURPOSE: To describe the demographics, characteristics, management pitfalls, and outcomes of pseudoptosis associated with congenital fibrosis of the extraocular muscles (CFEOM). METHODS: A retrospective review was performed of eight patients presenting with ptosis and hypotropia to oculoplastic service. All patients underwent full ocular evaluation and magnetic resonance imaging of brain and orbit. Five of these patients underwent stepwise correction of hypotropia by single-stage adjustable strabismus surgery (SSASS), followed by a frontalis sling if needed...
2013: Clinical Ophthalmology
Gustav Y Cederquist, Anna Luchniak, Max A Tischfield, Maya Peeva, Yuyu Song, Manoj P Menezes, Wai-Man Chan, Caroline Andrews, Sheena Chew, Robyn V Jamieson, Lavier Gomes, Maree Flaherty, Patricia Ellen Grant, Mohan L Gupta, Elizabeth C Engle
Microtubules are essential components of axon guidance machinery. Among β-tubulin mutations, only those in TUBB3 have been shown to cause primary errors in axon guidance. All identified mutations in TUBB2B result in polymicrogyria, but it remains unclear whether TUBB2B mutations can cause axon dysinnervation as a primary phenotype. We have identified a novel inherited heterozygous missense mutation in TUBB2B that results in an E421K amino acid substitution in a family who segregates congenital fibrosis of the extraocular muscles (CFEOM) with polymicrogyria...
December 15, 2012: Human Molecular Genetics
Lian-Hong Zhou, Li Wu, Yan Zhu, Jiong Wang, Yi-Qiao Xing
OBJECTIVE: To clinically characterize a collected family of congenital fibrosis of extraocular muscles associated with naso-sinusitis, then determine the genetic location of the disease gene by linkage analysis to approach the etiopathogenesis of CFEOM on gene. METHODS: A CFEOM family (fifteen cases suffering from congenital general fibrosis syndrome in four generations of 41 members) was collected. All the suffers were correlated with clinical ophthalmic and thin-sectioned magnetic resonance imaging across the orbit and the brain-stem level to determine its clinical classification and genetic characteristics...
March 2012: [Zhonghua Yan Ke za Zhi] Chinese Journal of Ophthalmology
Xia Chen, Xin Guo, Hui-zhi Ma
OBJECTIVE: To analyse the clinical manifestations and the effects of surgical management on Congenital fibrosis of extraocular muscles (CFEOM). METHODS: Forty cases with CFEOM were retrospectively summarized. The follows were recorded and analysed, including sex, surgical age, visual acuity, refractive condition, phenotype, the diopter, the complications of eye and other position of the body, familial history, surgical methods. RESULTS: In the 60 eyes having refractive record, 7 eyes were simple hyperopia (11...
November 2011: [Zhonghua Yan Ke za Zhi] Chinese Journal of Ophthalmology
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