Literature DB >> 27928411

Visual Impairment Due to Lissencephaly.

V E Marqués-Fernández1, H Sánchez-Tocino2, M T Escudero-Caro3, R Cancho-Candela4, M García-Zamora1.   

Abstract

Lissencephaly is a rare disorder due to abnormal neural migration, causing neurological impairment and clinically characterised by mental retardation and epilepsy. Any disturbance of the visual pathway can cause loss of vision. The authors describe a case of a 6-year-old boy referred to the ophthalmologist presenting poor bilateral vision. This child had no other known medical conditions, and neurological examination was completely normal. Only when a magnetic resonance imaging was made that a lissencephaly-pachygyria with band heterotopia mostly occipital was noted. Cortical defects should be considered in order to diagnosis some visual defects in children.

Entities:  

Keywords:  Binocular poor vision; cortical malformations; lissencephaly; visual defect

Year:  2016        PMID: 27928411      PMCID: PMC5122984          DOI: 10.1080/01658107.2016.1206127

Source DB:  PubMed          Journal:  Neuroophthalmology        ISSN: 0165-8107


  15 in total

1.  Classification system for malformations of cortical development: update 2001.

Authors:  A J Barkovich; R I Kuzniecky; G D Jackson; R Guerrini; W B Dobyns
Journal:  Neurology       Date:  2001-12-26       Impact factor: 9.910

Review 2.  Epilepsy and genetic malformations of the cerebral cortex.

Authors:  R Guerrini; R Carrozzo
Journal:  Am J Med Genet       Date:  2001

3.  The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene.

Authors:  C Cardoso; R J Leventer; N Matsumoto; J A Kuc; M B Ramocki; S K Mewborn; L L Dudlicek; L F May; P L Mills; S Das; D T Pilz; W B Dobyns; D H Ledbetter
Journal:  Hum Mol Genet       Date:  2000-12-12       Impact factor: 6.150

4.  Morphologic characteristics of subcortical heterotopia: MR imaging study.

Authors:  A J Barkovich
Journal:  AJNR Am J Neuroradiol       Date:  2000-02       Impact factor: 3.825

Review 5.  Lissencephaly and other malformations of cortical development: 1995 update.

Authors:  W B Dobyns; C L Truwit
Journal:  Neuropediatrics       Date:  1995-06       Impact factor: 1.947

6.  Identification of DCX gene mutation in lissencephaly spectrum with subcortical band heterotopia using whole exome sequencing.

Authors:  Mi-Ae Jang; Hye In Woo; Jong-Won Kim; Jeehun Lee; Chang-Seok Ki
Journal:  Pediatr Neurol       Date:  2013-05       Impact factor: 3.372

7.  The location of DCX mutations predicts malformation severity in X-linked lissencephaly.

Authors:  Pierre-Louis Leger; Isabelle Souville; Nathalie Boddaert; Caroline Elie; Jean Marc Pinard; Perrine Plouin; Marie Laure Moutard; Vincent des Portes; Hilde Van Esch; Sylvie Joriot; Jean Louis Renard; Jamel Chelly; Fiona Francis; Cherif Beldjord; Nadia Bahi-Buisson
Journal:  Neurogenetics       Date:  2008-08-07       Impact factor: 2.660

8.  The spectrum of lissencephaly: report of ten patients analyzed by magnetic resonance imaging.

Authors:  A J Barkovich; T K Koch; C L Carrol
Journal:  Ann Neurol       Date:  1991-08       Impact factor: 10.422

Review 9.  Malformations of cortical development: clinical spectrum in a series of 101 patients and review of the literature (Part I).

Authors:  Serdal Güngör; Dilek Yalnizoğlu; Güzide Turanli; Işil Saatçi; Emel Erdoğan-Bakar; Meral Topçu
Journal:  Turk J Pediatr       Date:  2007 Apr-Jun       Impact factor: 0.552

10.  Band heterotopia: correlation of outcome with magnetic resonance imaging parameters.

Authors:  A J Barkovich; R Guerrini; G Battaglia; G Kalifa; T N'Guyen; A Parmeggiani; M Santucci; P Giovanardi-Rossi; T Granata; L D'Incerti
Journal:  Ann Neurol       Date:  1994-10       Impact factor: 10.422

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  1 in total

1.  Case Report of Proliferative Peripheral Retinopathy in Two Familial Lissencephaly Infants with Miller-Dieker Syndrome.

Authors:  Omar Shoukfeh; Alan B Richards; Leonard A Prouty; John Hinrichsen; William Rand Spencer; Marlyn P Langford
Journal:  J Pediatr Genet       Date:  2017-12-29
  1 in total

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