Literature DB >> 27142037

[Eye involvement in neurofibromatosis].

M Baier1, S Pitz2.   

Abstract

Neurofibromatosis 1 (NF1) and neurofibromatosis 2 (NF2) are characterized by an autosomal dominant pattern of inheritance with irregular penetrance and a broad spectrum of different clinical phenotypes. There are large variations in the age of onset, progression and prognosis. Symptoms are often manifested early in childhood. Characteristics which the two main forms NF1 and NF2 have in common are a positive family history, characteristic skin alterations, such as café au lait macules, axillary or inguinal freckling and neural tumors such as neurofibroma and optic glioma (NF1) as well as (bilateral) vestibular schwannomas (NF2). An interdisciplinary cooperation is necessary for the diagnostics and therapy.

Entities:  

Keywords:  Diagnosis; Optic glioma; Prognosis; Progression; Therapy

Mesh:

Year:  2016        PMID: 27142037     DOI: 10.1007/s00347-016-0237-5

Source DB:  PubMed          Journal:  Ophthalmologe        ISSN: 0941-293X            Impact factor:   1.059


  25 in total

1.  Evaluation of clinical diagnostic criteria for neurofibromatosis 2.

Authors:  M E Baser; J M Friedman; A J Wallace; R T Ramsden; H Joe; D G R Evans
Journal:  Neurology       Date:  2002-12-10       Impact factor: 9.910

2.  Visual loss in children with neurofibromatosis type 1 and optic pathway gliomas: relation to tumor location by magnetic resonance imaging.

Authors:  L J Balcer; G T Liu; G Heller; L Bilaniuk; N J Volpe; S L Galetta; P T Molloy; P C Phillips; A J Janss; S Vaughn; M G Maguire
Journal:  Am J Ophthalmol       Date:  2001-04       Impact factor: 5.258

3.  Choroidal abnormalities detected by near-infrared reflectance imaging as a new diagnostic criterion for neurofibromatosis 1.

Authors:  Francesco Viola; Edoardo Villani; Federica Natacci; Angelo Selicorni; Giulia Melloni; Diego Vezzola; Giulio Barteselli; Chiara Mapelli; Cesare Pirondini; Roberto Ratiglia
Journal:  Ophthalmology       Date:  2011-10-02       Impact factor: 12.079

Review 4.  The pathoetiology of neurofibromatosis 1.

Authors:  Eeva-Mari Jouhilahti; Sirkku Peltonen; Anthony M Heape; Juha Peltonen
Journal:  Am J Pathol       Date:  2011-03-31       Impact factor: 4.307

5.  Congenital ectropion uvea and mechanisms of glaucoma in neurofibromatosis type 1: new insights.

Authors:  Deepak P Edward; Jose Morales; Rachida A Bouhenni; Jayaprakash Patil; Priya R Edward; Thomas J Cummings; Imtiaz A Chaudhry; Hind Alkatan
Journal:  Ophthalmology       Date:  2012-04-04       Impact factor: 12.079

Review 6.  Late-onset optic pathway tumors in children with neurofibromatosis 1.

Authors:  R Listernick; R E Ferner; L Piersall; S Sharif; D H Gutmann; J Charrow
Journal:  Neurology       Date:  2004-11-23       Impact factor: 9.910

7.  Images of Lisch nodules across the spectrum.

Authors:  N K Ragge; R E Falk; W E Cohen; A L Murphree
Journal:  Eye (Lond)       Date:  1993       Impact factor: 3.775

8.  Natural history of optic pathway tumors in children with neurofibromatosis type 1: a longitudinal study.

Authors:  R Listernick; J Charrow; M Greenwald; M Mets
Journal:  J Pediatr       Date:  1994-07       Impact factor: 4.406

9.  A clinical study of type 2 neurofibromatosis.

Authors:  D G Evans; S M Huson; D Donnai; W Neary; V Blair; V Newton; R Harris
Journal:  Q J Med       Date:  1992-08

10.  Update from the 2013 International Neurofibromatosis Conference.

Authors:  Scott R Plotkin; Anne C Albers; Dusica Babovic-Vuksanovic; Jaishri O Blakeley; Xandra O Breakefield; Courtney M Dunn; D Gareth Evans; Michael J Fisher; Jan M Friedman; Marco Giovannini; David H Gutmann; Michel Kalamarides; Andrea I McClatchey; Ludwine Messiaen; Helen Morrison; David B Parkinson; Anat O Stemmer-Rachamimov; Catherine D Van Raamsdonk; Vincent M Riccardi; Tena Rosser; Aaron Schindeler; Miriam J Smith; David A Stevenson; Nicole J Ullrich; Thijs van der Vaart; Brian Weiss; Brigitte C Widemann; Yuan Zhu; Annette C Bakker; Alison C Lloyd
Journal:  Am J Med Genet A       Date:  2014-09-24       Impact factor: 2.802

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