Literature DB >> 19153396

A patient with loss of vision in the right eye and neurofibromatosis type 1.

Nicola Mumoli1, Marco Cei, Carlo Bartolomei, Vania Pirillo.   

Abstract

Neurofibromatosis type 1 is a common autosomal dominant condition that affects about 1 in 5000 people. We describe a 75-year-old man who, in addition to many classic developmental changes of the disease in his skin, eyes and nervous system, had blindness in his right eye as a complication.

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Year:  2009        PMID： 19153396      PMCID： PMC2621301          DOI： 10.1503/cmaj.080706

Source DB:  PubMed          Journal:  CMAJ        ISSN： 0820-3946            Impact factor:   8.262


  11 in total

1.  Optic pathway glioma: correlation of imaging findings with the presence of neurofibromatosis.

Authors:  L Kornreich; S Blaser; M Schwarz; A Shuper; T H Vishne; I J Cohen; R Faingold; S Michovitz; B Koplewitz; G Horev
Journal:  AJNR Am J Neuroradiol       Date:  2001 Nov-Dec       Impact factor: 3.825

Review 2.  Von Recklinghausen's neurofibromatosis: neurofibromatosis type 1.

Authors:  R M Reynolds; G G P Browning; I Nawroz; I W Campbell
Journal:  Lancet       Date:  2003-05-03       Impact factor: 79.321

3.  A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations.

Authors:  R M Cawthon; R Weiss; G F Xu; D Viskochil; M Culver; J Stevens; M Robertson; D Dunn; R Gesteland; P O'Connell
Journal:  Cell       Date:  1990-07-13       Impact factor: 41.582

Review 4.  Optic pathway gliomas in neurofibromatosis-1: controversies and recommendations.

Authors:  Robert Listernick; Rosalie E Ferner; Grant T Liu; David H Gutmann
Journal:  Ann Neurol       Date:  2007-03       Impact factor: 10.422

Review 5.  Guidelines for the diagnosis and management of individuals with neurofibromatosis 1.

Authors:  Rosalie E Ferner; Susan M Huson; Nick Thomas; Celia Moss; Harry Willshaw; D Gareth Evans; Meena Upadhyaya; Richard Towers; Michael Gleeson; Christine Steiger; Amanda Kirby
Journal:  J Med Genet       Date:  2006-11-14       Impact factor: 6.318

6.  Optic pathway gliomas in children with neurofibromatosis 1: consensus statement from the NF1 Optic Pathway Glioma Task Force.

Authors:  R Listernick; D N Louis; R J Packer; D H Gutmann
Journal:  Ann Neurol       Date:  1997-02       Impact factor: 10.422

7.  Mortality in neurofibromatosis 1: an analysis using U.S. death certificates.

Authors:  S A Rasmussen; Q Yang; J M Friedman
Journal:  Am J Hum Genet       Date:  2001-03-28       Impact factor: 11.025

8.  Social, emotional, and behavioral functioning of children with NF1.

Authors:  Robert B Noll; Jennifer Reiter-Purtill; Bartlett D Moore; Elizabeth K Schorry; Anne M Lovell; Kathryn Vannatta; Cynthia A Gerhardt
Journal:  Am J Med Genet A       Date:  2007-10-01       Impact factor: 2.802

9.  Non-excision treatment of multiple cutaneous neurofibromas by laser photocoagulation.

Authors:  Tarek F Elwakil; Nevien A Samy; Mahmoud S Elbasiouny
Journal:  Lasers Med Sci       Date:  2007-08-15       Impact factor: 3.161

10.  Repair of the lower and middle parts of the face by composite tissue allotransplantation in a patient with massive plexiform neurofibroma: a 1-year follow-up study.

Authors:  Laurent Lantieri; Jean-Paul Meningaud; Philippe Grimbert; Frank Bellivier; Jean-Pascal Lefaucheur; Nicolas Ortonne; Marc-David Benjoar; Philippe Lang; Pierre Wolkenstein
Journal:  Lancet       Date:  2008-08-23       Impact factor: 79.321
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