Orbital/Periorbital Plexiform Neurofibromas in Children with Neurofibromatosis Type 1: Multidisciplinary Recommendations for Care

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• 作者：Robert A. Avery ; DO ; MSCE¹ ; ² ; ³ ; ⁵ ; ⁶ ; ^{averyr@email.chop.edu} ; James A. Katowitz ; MD⁶ ; Michael J. Fisher ; MD⁷ ; Gena Heidary ; MD ; PhD⁸ ; Eva Dombi ; MD⁹ ; Roger J. Packer ; MD¹ ; ² ; ⁴ ; ⁵ ; Brigitte C. Widemann ; MD⁹ ; on behalf of the OPPN Working GroupKelly A. Hutcheson ; MD ; William P. Madigan ; MD ; Robert Listernick ; MD ; Grant T. Liu ; MD ; Jerry E. Berland ; MD ; Edmond J. FitzGibbon ; MD ; Bruce R. Korf ; MD ; PhD
• 关键词：FDA ; Food and Drug Administration ; MEK ; mitogen-activated protein kinase kinase ; MRI ; magnetic resonance imaging ; NF1 ; neurofibromatosis type 1 ; OPPN ; orbital-periorbital plexiform neurofibroma ; PN ; plexiform neurofibroma ; TTP ; time to progression
• 刊名：Ophthalmology
• 出版年：2017
• 出版时间：January 2017
• 年：2017
• 卷：124
• 期：1
• 页码：123-132
• 全文大小：708 K
• 卷排序：124

文摘

Children and adults with neurofibromatosis type 1 (NF1), a common autosomal dominant condition, manifest a variety of ophthalmologic conditions. Plexiform neurofibromas (PNs) involving the eyelid, orbit, periorbital, and facial structures (orbital-periorbital plexiform neurofibroma [OPPN]) can result in significant visual loss in children. Equally important, OPPNs can cause significant alteration in physical appearance secondary to proptosis, ptosis, and facial disfigurement, leading to social embarrassment and decreased self-esteem.Clinical RelevanceAlthough NF1 is a relatively common disease in which routine ophthalmologic examinations are required, no formal recommendations for clinical care of children with OPPNs exist. Although medical and surgical interventions have been reported, there are no agreed-on criteria for when OPPNs require therapy and which treatment produces the best outcome.MethodsBecause a multidisciplinary team of specialists (oculofacial plastics, pediatric ophthalmology, neuro-ophthalmology, medical genetics, and neuro-oncology) direct management decisions, the absence of a uniform outcome measure that represents visual or aesthetic sequelae complicates the design of evidence-based studies and feasible clinical trials.ResultsIn September 2013, a multidisciplinary task force, composed of pediatric practitioners from tertiary care centers experienced in caring for children with OPPN, was convened to address the lack of clinical care guidelines for children with OPPN.ConclusionsThis consensus statement provides recommendations for ophthalmologic monitoring, outlines treatment indications and forthcoming biologic therapy, and discusses challenges to performing clinical trials in this complicated condition.