Literature DB >> 9246269

The ocular presentation of neurofibromatosis 2.

N K Ragge1, M E Baser, V M Riccardi, R E Falk.   

Abstract

Neurofibromatosis 2 (NF2) is an inherited disorder characterised primarily by bilateral vestibular schwannomas and other central nervous system tumours. Individuals with NF2 also have early onset cortical and posterior subcapsular or capsular cataract and other ocular abnormalities, such as retinal hamartomas. Although their diagnostic significance is rarely appreciated, the ocular manifestations are often the first sign of disease. We describe 5 cases that illustrate the diverse ocular manifestations of NF2.

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Mesh:

Year:  1997        PMID: 9246269     DOI: 10.1038/eye.1997.3

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


  12 in total

Review 1.  Neurofibromatosis type 2.

Authors:  Ashok R Asthagiri; Dilys M Parry; John A Butman; H Jeffrey Kim; Ekaterini T Tsilou; Zhengping Zhuang; Russell R Lonser
Journal:  Lancet       Date:  2009-05-22       Impact factor: 79.321

2.  Nf2 fine-tunes proliferation and tissue alignment during closure of the optic fissure in the embryonic mouse eye.

Authors:  Wesley R Sun; Sara Ramirez; Kelly E Spiller; Yan Zhao; Sabine Fuhrmann
Journal:  Hum Mol Genet       Date:  2020-12-18       Impact factor: 6.150

3.  Familial bilateral combined hamartoma of retina and retinal pigment epithelium associated with neurofibromatosis 1.

Authors:  Sanaa A Yassin; Elham R Al-Tamimi
Journal:  Saudi J Ophthalmol       Date:  2012-03-19

4.  Differential Expression of NF2 in Neuroepithelial Compartments Is Necessary for Mammalian Eye Development.

Authors:  Kyeong Hwan Moon; Hyoung-Tai Kim; Dahye Lee; Mahesh B Rao; Edward M Levine; Dae-Sik Lim; Jin Woo Kim
Journal:  Dev Cell       Date:  2017-12-14       Impact factor: 12.270

5.  Loss of heterozygosity for the NF2 gene in retinal and optic nerve lesions of patients with neurofibromatosis 2.

Authors:  Chi-Chao Chan; Christian A Koch; Muriel I Kaiser-Kupfer; Dilys M Parry; David H Gutmann; Zhengping Zhuang; Alexander O Vortmeyer
Journal:  J Pathol       Date:  2002-09       Impact factor: 7.996

6.  Neurofibromatosis type 2: a case of ptosis.

Authors:  L Cotticelli; M Romano; S Russo; M Borrelli
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  2007-03-09       Impact factor: 3.117

7.  Pediatric cataract, myopic astigmatism, familial exudative vitreoretinopathy and primary open-angle glaucoma co-segregating in a family.

Authors:  D A Mackey; A W Hewitt; J B Ruddle; B Vote; R G Buttery; C Toomes; R Metlapally; Y J Li; K N Tran-Viet; F Malecaze; P Calvas; T Rosenberg; J A Guggenheim; T L Young
Journal:  Mol Vis       Date:  2011-08-10       Impact factor: 2.367

8.  Neurofibromatosis Type 2 Presenting with Oculomotor Ophthalmoplegia and Distal Myopathy.

Authors:  Jessica Mani Penny Tevaraj; Evelyn Tai Li Min; Raja Azmi Mohd Noor; Azhany Yaakub; Wan Hazabbah Wan Hitam
Journal:  Case Rep Ophthalmol Med       Date:  2016-09-21

Review 9.  Childhood neurofibromatosis type 2 (NF2) and related disorders: from bench to bedside and biologically targeted therapies.

Authors:  M Ruggieri; A D Praticò; A Serra; L Maiolino; S Cocuzza; P Di Mauro; L Licciardello; P Milone; G Privitera; G Belfiore; M Di Pietro; F Di Raimondo; A Romano; A Chiarenza; M Muglia; A Polizzi; D G Evans
Journal:  Acta Otorhinolaryngol Ital       Date:  2016-10       Impact factor: 2.124

Review 10.  The molecular pathogenesis of schwannomatosis, a paradigm for the co-involvement of multiple tumour suppressor genes in tumorigenesis.

Authors:  Hildegard Kehrer-Sawatzki; Said Farschtschi; Victor-Felix Mautner; David N Cooper
Journal:  Hum Genet       Date:  2016-12-05       Impact factor: 4.132

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