نتایج جستجو برای: optic nerve hypoplasia

تعداد نتایج: 201064  

Journal: :Developmental medicine and child neurology 2014
Marian E Williams Cassandra Fink Irina Zamora Mark Borchert

AIM This study examined the utility of standard autism diagnostic measures in nine children (aged 5-9y) with severe vision impairment and a range of social and language functioning. METHOD The Autism Diagnostic Observation Schedule (ADOS) and the Autism Diagnostic Interview, Revised (ADI-R) were systematically modified and used to assess symptoms of autism in children with vision less than or...

Journal: :Human molecular genetics 2001
P Q Thomas M T Dattani J M Brickman D McNay G Warne M Zacharin F Cameron J Hurst K Woods D Dunger R Stanhope S Forrest I C Robinson R S Beddington

We have previously shown that familial septo-optic dysplasia (SOD), a syndromic form of congenital hypopituitarism involving optic nerve hypoplasia and agenesis of midline brain structures, is associated with homozygosity for an inactivating mutation in the homeobox gene HESX1/Hesx1 in man and mouse. However, as most SOD/congenital hypopituitarism occurs sporadically, the possible contribution ...

2017
Satoshi Katagiri Sachiko Nishina Tadashi Yokoi Masashi Mikami Yuri Nakayama Michiko Tanaka Noriyuki Azuma

We investigated retinal structure and function in eyes with optic nerve hypoplasia (ONH). Twenty-nine eyes of 18 patients with ONH and 21 eyes of 21 control patients were analyzed. Spectral-domain optical coherence tomography (SD-OCT), full-field electroretinography (FF-ERG), and focal macular ERG (FM-ERG) were performed. SD-OCT analysis of the macular region showed significant ganglion cells c...

Journal: :Anales de pediatria 2015
L Cavero-Roig Á Díaz-Conradi A Negre-Loscertales A Ferrero-Rosanas A Salvador-Valle S Burch-Piñol O Urraca-Martínez J Massaguer-Cabrera

INTRODUCTION To describe the ophthalmological conditions seen in children adopted internationally by Spanish families, and to assess the influence of the world region of origin and the preadoption period of institutional care on these conditions. MATERIAL AND METHODS A descriptive, observational, cross-sectional study was conducted on 232 children divided into 4 groups according to world regi...

Journal: :Vision Research 1995
T. Kivelä

Purpose: Visual symptom6 and siSm & with Central NSystem (CNS) tumours rm frequent Se, ~~~~-@thahtte~d tixamidm d treatment of theBe tutualrs. The aldhas mede&tians in 61 children pkntiag CNS tumatm. Clinical, hyn@&dcgitxd andanatmnical cotnlations arepreadedinddiecuned. lteeultr: Differat hyraqmblo&al m of CNS hlmow werefald astmcylomas (46.1 %) arsbellum Mmytormv (5.0 %)), tuaim Yaocyuanss (9...

Cochlear nerve (CN) aplasia refers to the absence of a visible CN on oblique sagittal magnetic resonance images of the lateral aspect of the inner auditory canal (IAC). Magnetic resonance (MR) is the preferred technique in patients with sensorineural hearing loss and/or vertigo; however, computed tomography (CT) is used to evaluate the IAC or facial nerve canal. Three types of aplasia or hypopl...

2015
Aditi Khokhar Sheila Perez-Colon

Background: Septo-optic dysplasia (SOD) is a rare condition characterized by midline brain abnormalities, optic nerve hypoplasia and hypothalamic-pituitary deficiencies. Both genetic and environmental factors are involved in its pathogenesis. Genetic abnormalities are identified in only one percent of patients. Objective: To describe varied clinical spectrum of SOD among five children from diff...

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