Literature DB >> 8796154

Systemic anomalies in 77 patients with congenital anophthalmos or microphthalmos.

S Tucker1, B Jones, R Collin.   

Abstract

Congenital anophthalmos and microphthalmos are rare conditions which can have associated pathology in the second eye and/or systemic anomalies. A retrospective review of 77 patients with congenital anophthalmos or microphthalmos seen at Moorfields Eye Hospital over a 13 year period was performed. A detailed description of the ocular and systemic anomalies present in our series of patients is given, and the current understanding of the pathogenesis of congenital anophthalmos and microphthalmos is reviewed.

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Year:  1996        PMID: 8796154     DOI: 10.1038/eye.1996.65

Source DB:  PubMed          Journal:  Eye (Lond)        ISSN: 0950-222X            Impact factor:   3.775


  12 in total

1.  Unilateral Autosomal Recessive Anophthalmia in a Patient with Cystic Craniopharyngioma.

Authors:  Amandeep Kumar; Ankit Bansal; Ajay Garg; Bhawani S Sharma
Journal:  Neuroophthalmology       Date:  2014-04-25

2.  A novel deletion mutation of the SOX2 gene in a child of Chinese origin with congenital bilateral anophthalmia and sensorineural hearing loss.

Authors:  Yan Zhang; Xibo Zhang; Ran Long; Ling Yu
Journal:  J Genet       Date:  2018-09       Impact factor: 1.166

3.  Use of genome-wide SNP homozygosity mapping in small pedigrees to identify new mutations in VSX2 causing recessive microphthalmia and a semidominant inner retinal dystrophy.

Authors:  Sibel Ugur Iseri; Alexander W Wyatt; Gudrun Nürnberg; Christian Kluck; Peter Nürnberg; Graham E Holder; Ed Blair; Alison Salt; Nicola K Ragge
Journal:  Hum Genet       Date:  2010-04-23       Impact factor: 4.132

4.  ALDH1A3 mutations cause recessive anophthalmia and microphthalmia.

Authors:  Lucas Fares-Taie; Sylvie Gerber; Nicolas Chassaing; Jill Clayton-Smith; Sylvain Hanein; Eduardo Silva; Margaux Serey; Valérie Serre; Xavier Gérard; Clarisse Baumann; Ghislaine Plessis; Bénédicte Demeer; Lionel Brétillon; Christine Bole; Patrick Nitschke; Arnold Munnich; Stanislas Lyonnet; Patrick Calvas; Josseline Kaplan; Nicola Ragge; Jean-Michel Rozet
Journal:  Am J Hum Genet       Date:  2013-01-09       Impact factor: 11.025

5.  The management of orbital cysts associated with congenital microphthalmos and anophthalmos.

Authors:  C J McLean; N K Ragge; R B Jones; J R O Collin
Journal:  Br J Ophthalmol       Date:  2003-07       Impact factor: 4.638

6.  [Congenital clinical anophthalmia and blind microphthalmia].

Authors:  M P Schittkowski; K K H Gundlach; R F Guthoff
Journal:  Ophthalmologe       Date:  2003-06-21       Impact factor: 1.059

7.  [Treatment of congenital clinical anophthalmos with high hydrophilic hydrogel expanders].

Authors:  M P Schittkowski; K K H Gundlach; R F Guthoff
Journal:  Ophthalmologe       Date:  2003-06-25       Impact factor: 1.059

8.  Differentiation of true anophthalmia from clinical anophthalmia using neuroradiological imaging.

Authors:  Ali Riza Cenk Celebi; Hadi Sasani
Journal:  World J Radiol       Date:  2014-07-28

9.  NAA10 polyadenylation signal variants cause syndromic microphthalmia.

Authors:  Jennifer J Johnston; Kathleen A Williamson; Christopher M Chou; Julie C Sapp; Morad Ansari; Heather M Chapman; David N Cooper; Tabib Dabir; Jeffrey N Dudley; Richard J Holt; Nicola K Ragge; Alejandro A Schäffer; Shurjo K Sen; Anne M Slavotinek; David R FitzPatrick; Thomas M Glaser; Fiona Stewart; Graeme Cm Black; Leslie G Biesecker
Journal:  J Med Genet       Date:  2019-03-06       Impact factor: 6.318

10.  Digital Evaluation of Orbital Cyst Associated with Microphthalmos: Characteristics and Their Relationship with Orbital Volume.

Authors:  Ying Cui; Yue Zhang; Qinglin Chang; Junfang Xian; Zhijia Hou; Dongmei Li
Journal:  PLoS One       Date:  2016-06-17       Impact factor: 3.240

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