Orbital/Periorbital Plexiform Neurofibromas in Children with Neurofibromatosis Type 1
| Autor: | Michael Fisher, Brigitte C. Widemann, Bruce R. Korf, Grant T. Liu, James A. Katowitz, Kelly A. Hutcheson, Robert Listernick, Roger J. Packer, Eva Dombi, William P. Madigan, Gena Heidary, Robert A. Avery, Jerry E. Berland, Edmond J. FitzGibbon |
|---|---|
| Rok vydání: | 2017 |
| Předmět: |
medicine.medical_specialty
Pediatrics business.industry medicine.disease Surgery Clinical trial 03 medical and health sciences Ophthalmology 0302 clinical medicine Ptosis Multidisciplinary approach Plexiform neurofibroma 030221 ophthalmology & optometry medicine Medical genetics Pediatric ophthalmology Clinical significance medicine.symptom Neurofibromatosis business 030217 neurology & neurosurgery |
| Zdroj: | Ophthalmology. 124:123-132 |
| ISSN: | 0161-6420 |
| DOI: | 10.1016/j.ophtha.2016.09.020 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|