Neurofibromatosis Type 1: Review and Update on Emerging Therapies

被引：42

作者：

Karaconji, Tanya ^{[1
,2
]}

Whist, Eline ^{[1
,3
]}

Jamieson, Robyn V. ^{[4
,5
,6
,7
,8
,9
]}

Flaherty, Maree P. ^{[1
,10
]}

Grigg, John R. B. ^{[1
,7
,8
,11
]}

机构：

[1] Univ Sydney, Save Sight Inst, Sydney Med Sch, Discipline Ophthalmol, Sydney, NSW 2006, Australia

[2] Manchester Royal Eye Hosp, Manchester, Lancs, England

[3] Royal Darwin Hosp, Darwin, NT, Australia

[4] Univ Sydney, Sydney Med Sch, Discipline Paediat, Sydney, NSW, Australia

[5] Univ Sydney, Sydney Med Sch, Discipline Genom Med, Sydney, NSW, Australia

[6] Univ Sydney, Sydney Med Sch, Discipline Ophthalmol, Sydney, NSW, Australia

[7] Univ Sydney, Childrens Med Res Inst, Eye Genet Res Unit, Sydney, NSW, Australia

[8] Childrens Hosp, Save Sight Inst & Eye Genet Clin, Westmead, NSW, Australia

[9] Westmead Hosp, Sydney, NSW, Australia

[10] Childrens Hosp, Dept Ophthalmol, Westmead, NSW, Australia

[11] Sydney Eye Hosp, Sydney, NSW, Australia

来源：

ASIA-PACIFIC JOURNAL OF OPHTHALMOLOGY | 2019年 / 8卷 / 01期

基金：

澳大利亚国家健康与医学研究理事会;

关键词：

choroidal nodules; neurofibromatosis; 1; optic pathway glioma; phakomatoses; OPTIC PATHWAY GLIOMAS; NERVE SHEATH TUMORS; LOW-GRADE GLIOMAS; CHOROIDAL ABNORMALITIES; LISCH NODULES; NF1; GENE; PLEXIFORM NEUROFIBROMAS; COHERENCE TOMOGRAPHY; FOLLOW-UP; CHILDREN;

D O I：

10.22608/APO.2018182

中图分类号：

R77 [眼科学];

学科分类号：

100212 ;

摘要：

Neurofibromatosis type 1 is an autosomal dominant neurocutaneous disorder affecting 1 in 3000 births. This familial tumor predisposition syndrome is diagnosed clinically and affects the skin, bones, and nervous system. Malignant tumors can arise in childhood or adulthood and are the most common cause of mortality in this population. Early diagnosis and management led by a multidisciplinary team remains the standard of care, particularly in the management of optic pathway glioma. Emerging concepts in the genetic patterns of this condition have led to the introduction of new treatment modalities that target the mitogen-activated protein kinase and the mammalian target of rapamycin pathways. In this review, the role of the ophthalmologist and approach to screening for optic pathway glioma are outlined based on previous recommendations. Updates on choroidal involvement, as a diagnostic criterion, will also be discussed, further highlighting the pivotal role of the ophthalmologist in the diagnosis and management of this complex condition.

引用

页码：62 / 72

页数：11

共 94 条

[1] Neurofibromatosis: an update of ophthalmic characteristics and applications of optical coherence tomography [J].