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

被引：1

作者：

Mumoli, Nicola ^{[1
]}

Cei, Marco ^{[1
]}

Bartolomei, Carlo ^{[1
]}

Pirillo, Vania ^{[2
]}

机构：

[1] Osped Civile, Dept Internal Med, Livorno, Italy

[2] Univ Florence, Dept Neurosurg, Florence, Italy

来源：

CANADIAN MEDICAL ASSOCIATION JOURNAL | 2009年 / 180卷 / 02期

关键词：

OPTIC PATHWAY GLIOMAS; CHILDREN; NF1;

D O I：

10.1503/cmaj.080706

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：203 / 206

页数：4

共 11 条

[1] A MAJOR SEGMENT OF THE NEUROFIBROMATOSIS TYPE-1 GENE - CDNA SEQUENCE, GENOMIC STRUCTURE, AND POINT MUTATIONS
CAWTHON, RM
WEISS, R
XU, GF
VISKOCHIL, D
CULVER, M
STEVENS, J
ROBERTSON, M
DUNN, D
GESTELAND, R
OCONNELL, P
WHITE, R
[J]. CELL, 1990, 62 (01) : 193 - 201
[2] Non-excision treatment of multiple cutaneous neurofibromas by laser photocoagulation
Elwakil, Tarek F.
Samy, Nevien A.
Elbasiouny, Mahmoud S.
[J]. LASERS IN MEDICAL SCIENCE, 2008, 23 (03) : 301 - 306
[3] Guidelines for the diagnosis and management of individuals with neurofibromatosis 1
Ferner, Rosalie E.
Huson, Susan M.
Thomas, Nick
Moss, Celia
Willshaw, Harry
Evans, D. Gareth
Upadhyaya, Meena
Towers, Richard
Gleeson, Michael
Steiger, Christine
Kirby, Amanda
[J]. JOURNAL OF MEDICAL GENETICS, 2007, 44 (02) : 81 - 88
[4] Recent insights into neurofibromatosis type 1 - Clear genetic progress
Gutmann, DH
[J]. ARCHIVES OF NEUROLOGY, 1998, 55 (06) : 778 - 780
[5] Kornreich L, 2001, AM J NEURORADIOL, V22, P1963
[6] 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
Lantieri, Laurent
Meningaud, Jean-Paul
Grimbert, Philippe
Bellivier, Frank
Lefaucheur, Jean-Pascal
Ortonne, Nicolas
Benjoar, Marc-David
Lang, Philippe
Wolkenstein, Pierre
[J]. LANCET, 2008, 372 (9639) : 639 - 645
[7] Optic pathway gliomas in children with neurofibromatosis .1. Consensus statement from the NF1 optic pathway glioma task force
Listernick, R
Louis, DN
Packer, RJ
Gutmann, DH
[J]. ANNALS OF NEUROLOGY, 1997, 41 (02) : 143 - 149
[8] Optic pathway gliomas in neurofibromatosis-1: Controversies and recommendations
Listernick, Robert
Ferner, Rosalie E.
Liu, Grant T.
Gutmann, David H.
[J]. ANNALS OF NEUROLOGY, 2007, 61 (03) : 189 - 198
[9] Social, emotional, and behavioral functioning of children with NF1
Noll, Robert B.
Reiter-Purtill, Jennifer
Moore, Bartlett D.
Schorry, Elizabeth K.
Lovell, Anne M.
Vannatta, Kathryn
Gerhardt, Cynthia A.
[J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2007, 143A (19) : 2261 - 2273
[10] Mortality in neurofibromatosis 1: An analysis using US death certificates
Rasmussen, SA
Yang, QH
Friedman, JM
[J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 68 (05) : 1110 - 1118

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