Orbital/Periorbital Plexiform Neurofibromas in Children with Neurofibromatosis Type 1

Multidisciplinary Recommendations for Care

Robert A. Avery, James A. Katowitz, Michael J. Fisher, Gena Heidary, Eva Dombi, Roger J. Packer, Brigitte C. Widemann, Kelly A. Hutcheson, William P. Madigan, Robert Listernick, Grant T. Liu, Jerry E. Berland, Edmond J. FitzGibbon, Bruce R. Korf

Research output: Contribution to journalArticle

Abstract

Topic 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 Relevance Although 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. Methods Because 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. Results In 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. Conclusions This 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.

Original languageEnglish (US)
Pages (from-to)123-132
Number of pages10
JournalOphthalmology
Volume124
Issue number1
DOIs
StatePublished - Jan 1 2017
Externally publishedYes

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Plexiform Neurofibroma
Neurofibromatosis 1
Ophthalmology
Child Care
Clinical Trials
Pediatrics
Biological Therapy
Exophthalmos
Medical Genetics
Orbit
Advisory Committees
Eyelids
Esthetics
Tertiary Care Centers
Self Concept
Plastics
Consensus
Therapeutics
Outcome Assessment (Health Care)
Guidelines

ASJC Scopus subject areas

  • Ophthalmology

Cite this

Avery, R. A., Katowitz, J. A., Fisher, M. J., Heidary, G., Dombi, E., Packer, R. J., ... Korf, B. R. (2017). Orbital/Periorbital Plexiform Neurofibromas in Children with Neurofibromatosis Type 1: Multidisciplinary Recommendations for Care. Ophthalmology, 124(1), 123-132. https://doi.org/10.1016/j.ophtha.2016.09.020

Orbital/Periorbital Plexiform Neurofibromas in Children with Neurofibromatosis Type 1 : Multidisciplinary Recommendations for Care. / Avery, Robert A.; Katowitz, James A.; Fisher, Michael J.; Heidary, Gena; Dombi, Eva; Packer, Roger J.; Widemann, Brigitte C.; Hutcheson, Kelly A.; Madigan, William P.; Listernick, Robert; Liu, Grant T.; Berland, Jerry E.; FitzGibbon, Edmond J.; Korf, Bruce R.

In: Ophthalmology, Vol. 124, No. 1, 01.01.2017, p. 123-132.

Research output: Contribution to journalArticle

Avery, RA, Katowitz, JA, Fisher, MJ, Heidary, G, Dombi, E, Packer, RJ, Widemann, BC, Hutcheson, KA, Madigan, WP, Listernick, R, Liu, GT, Berland, JE, FitzGibbon, EJ & Korf, BR 2017, 'Orbital/Periorbital Plexiform Neurofibromas in Children with Neurofibromatosis Type 1: Multidisciplinary Recommendations for Care', Ophthalmology, vol. 124, no. 1, pp. 123-132. https://doi.org/10.1016/j.ophtha.2016.09.020
Avery, Robert A. ; Katowitz, James A. ; Fisher, Michael J. ; Heidary, Gena ; Dombi, Eva ; Packer, Roger J. ; Widemann, Brigitte C. ; Hutcheson, Kelly A. ; Madigan, William P. ; Listernick, Robert ; Liu, Grant T. ; Berland, Jerry E. ; FitzGibbon, Edmond J. ; Korf, Bruce R. / Orbital/Periorbital Plexiform Neurofibromas in Children with Neurofibromatosis Type 1 : Multidisciplinary Recommendations for Care. In: Ophthalmology. 2017 ; Vol. 124, No. 1. pp. 123-132.
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abstract = "Topic 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 Relevance Although 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. Methods Because 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. Results In 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. Conclusions This 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.",
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AU - Katowitz, James A.

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AU - Heidary, Gena

AU - Dombi, Eva

AU - Packer, Roger J.

AU - Widemann, Brigitte C.

AU - Hutcheson, Kelly A.

AU - Madigan, William P.

AU - Listernick, Robert

AU - Liu, Grant T.

AU - Berland, Jerry E.

AU - FitzGibbon, Edmond J.

AU - Korf, Bruce R.

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N2 - Topic 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 Relevance Although 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. Methods Because 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. Results In 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. Conclusions This 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.

AB - Topic 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 Relevance Although 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. Methods Because 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. Results In 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. Conclusions This 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.

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