TY - JOUR
T1 - Ophthalmic manifestations in neurofibromatosis type 1
AU - Kinori, Michael
AU - Hodgson, Nickisa
AU - Zeid, Janice Lasky
N1 - Publisher Copyright:
© 2017 Elsevier Inc.
PY - 2018/7/1
Y1 - 2018/7/1
N2 - Neurofibromatosis type 1 (NF1) is a relatively common multisystemic inherited disease and has been extensively studied by multiple disciplines. Although genetic testing and confirmation are available, NF1 remains a clinical diagnosis. Many manifestations of NF1 involve the eye and orbit, and the ophthalmologist, therefore, plays a significant role in the diagnosis and treatment of NF1 patients. Improvements in diagnostic and imaging instruments have provided new insight to study the ophthalmic manifestations of the disease. We provide a comprehensive and up-to-date overview of the ocular and orbital manifestations of NF1.
AB - Neurofibromatosis type 1 (NF1) is a relatively common multisystemic inherited disease and has been extensively studied by multiple disciplines. Although genetic testing and confirmation are available, NF1 remains a clinical diagnosis. Many manifestations of NF1 involve the eye and orbit, and the ophthalmologist, therefore, plays a significant role in the diagnosis and treatment of NF1 patients. Improvements in diagnostic and imaging instruments have provided new insight to study the ophthalmic manifestations of the disease. We provide a comprehensive and up-to-date overview of the ocular and orbital manifestations of NF1.
KW - Lisch nodules
KW - neurofibromatosis type 1
KW - optic pathway gliomas
KW - plexiform neurofibromas
KW - von Recklinghausen's disease
UR - http://www.scopus.com/inward/record.url?scp=85034424341&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85034424341&partnerID=8YFLogxK
U2 - 10.1016/j.survophthal.2017.10.007
DO - 10.1016/j.survophthal.2017.10.007
M3 - Review article
C2 - 29080631
AN - SCOPUS:85034424341
SN - 0039-6257
VL - 63
SP - 518
EP - 533
JO - Survey of ophthalmology
JF - Survey of ophthalmology
IS - 4
ER -