Visual outcomes in children with neurofibromatosis type 1 and orbitotemporal plexiform neurofibromas

Robert A. Avery, Eva Dombi, Kelly A. Hutcheson, Maria T. Acosta, Andrea M. Baldwin, William P. Madigan, Andrea Gillespie, Edmond J. Fitzgibbon, Roger J. Packer, Brigitte C. Widemann

Research output: Contribution to journalArticle

Abstract

Purpose: To describe the visual outcomes and volumetric magnetic resonance imaging (3D MRI) in children with neurofibromatosis type 1 (NF1) and orbitotemporal plexiform neurofibromas. Design: Multicenter retrospective case series. Methods: Two institutions with dedicated NF1 clinical research programs queried their established clinical databases for children with orbitotemporal plexiform neurofibromas. Visual acuity, refractive error, ambylopia, and treatment history were abstracted. Extent of orbitotemporal plexiform neurofibroma involvement was assessed clinically and with 3D MRI analysis. Children with optic pathway gliomas or ocular causes of decreased visual acuity (ie, cataracts, glaucoma) other than strabismus or anisometropia were excluded. Results: Twenty-one children met inclusion criteria (median age 8 years, range 0.33-23 years). Orbitotemporal plexiform neurofibroma location was classified as isolated eyelid (n = 6), eyelid and orbit (n = 7), orbit and temporal region (n = 7), or diffuse orbit (n = 1). Three subjects had bilateral orbital involvement. Amblyopia secondary to the orbitotemporal plexiform neurofibroma was present in 13 subjects (62%) and was caused by strabismus (n = 2, 10%), occlusion from ptosis (n = 9, 43%), or anisometropia (n = 9, 43%), or a combination of factors (n = 6, 29%). MRI-derived volumes were measured in 19 subjects (median 41.8 mL, range 2.7-754 mL). All subjects with amblyopia had orbitotemporal plexiform neurofibroma volumes greater than 10 mL. Conclusion: In our series, amblyopia occurs in more than half of NF1 children with orbitotemporal plexiform neurofibromas, most commonly because of ptosis and anisometropia. The 3D MRI analysis allowed for sensitive measurement of orbitotemporal plexiform neurofibroma size, and larger volumes were associated with development of amblyopia.

Original languageEnglish (US)
JournalAmerican Journal of Ophthalmology
Volume155
Issue number6
DOIs
StatePublished - Jun 2013
Externally publishedYes

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Plexiform Neurofibroma
Neurofibromatosis 1
Amblyopia
Anisometropia
Orbit
Strabismus
Eyelids
Visual Acuity
Optic Nerve Glioma
Refractive Errors
Temporal Lobe
Glaucoma
Cataract
History
Magnetic Resonance Imaging
Databases

ASJC Scopus subject areas

  • Ophthalmology

Cite this

Avery, R. A., Dombi, E., Hutcheson, K. A., Acosta, M. T., Baldwin, A. M., Madigan, W. P., ... Widemann, B. C. (2013). Visual outcomes in children with neurofibromatosis type 1 and orbitotemporal plexiform neurofibromas. American Journal of Ophthalmology, 155(6). https://doi.org/10.1016/j.ajo.2013.01.011

Visual outcomes in children with neurofibromatosis type 1 and orbitotemporal plexiform neurofibromas. / Avery, Robert A.; Dombi, Eva; Hutcheson, Kelly A.; Acosta, Maria T.; Baldwin, Andrea M.; Madigan, William P.; Gillespie, Andrea; Fitzgibbon, Edmond J.; Packer, Roger J.; Widemann, Brigitte C.

In: American Journal of Ophthalmology, Vol. 155, No. 6, 06.2013.

Research output: Contribution to journalArticle

Avery, RA, Dombi, E, Hutcheson, KA, Acosta, MT, Baldwin, AM, Madigan, WP, Gillespie, A, Fitzgibbon, EJ, Packer, RJ & Widemann, BC 2013, 'Visual outcomes in children with neurofibromatosis type 1 and orbitotemporal plexiform neurofibromas', American Journal of Ophthalmology, vol. 155, no. 6. https://doi.org/10.1016/j.ajo.2013.01.011
Avery, Robert A. ; Dombi, Eva ; Hutcheson, Kelly A. ; Acosta, Maria T. ; Baldwin, Andrea M. ; Madigan, William P. ; Gillespie, Andrea ; Fitzgibbon, Edmond J. ; Packer, Roger J. ; Widemann, Brigitte C. / Visual outcomes in children with neurofibromatosis type 1 and orbitotemporal plexiform neurofibromas. In: American Journal of Ophthalmology. 2013 ; Vol. 155, No. 6.
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abstract = "Purpose: To describe the visual outcomes and volumetric magnetic resonance imaging (3D MRI) in children with neurofibromatosis type 1 (NF1) and orbitotemporal plexiform neurofibromas. Design: Multicenter retrospective case series. Methods: Two institutions with dedicated NF1 clinical research programs queried their established clinical databases for children with orbitotemporal plexiform neurofibromas. Visual acuity, refractive error, ambylopia, and treatment history were abstracted. Extent of orbitotemporal plexiform neurofibroma involvement was assessed clinically and with 3D MRI analysis. Children with optic pathway gliomas or ocular causes of decreased visual acuity (ie, cataracts, glaucoma) other than strabismus or anisometropia were excluded. Results: Twenty-one children met inclusion criteria (median age 8 years, range 0.33-23 years). Orbitotemporal plexiform neurofibroma location was classified as isolated eyelid (n = 6), eyelid and orbit (n = 7), orbit and temporal region (n = 7), or diffuse orbit (n = 1). Three subjects had bilateral orbital involvement. Amblyopia secondary to the orbitotemporal plexiform neurofibroma was present in 13 subjects (62{\%}) and was caused by strabismus (n = 2, 10{\%}), occlusion from ptosis (n = 9, 43{\%}), or anisometropia (n = 9, 43{\%}), or a combination of factors (n = 6, 29{\%}). MRI-derived volumes were measured in 19 subjects (median 41.8 mL, range 2.7-754 mL). All subjects with amblyopia had orbitotemporal plexiform neurofibroma volumes greater than 10 mL. Conclusion: In our series, amblyopia occurs in more than half of NF1 children with orbitotemporal plexiform neurofibromas, most commonly because of ptosis and anisometropia. The 3D MRI analysis allowed for sensitive measurement of orbitotemporal plexiform neurofibroma size, and larger volumes were associated with development of amblyopia.",
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AU - Acosta, Maria T.

AU - Baldwin, Andrea M.

AU - Madigan, William P.

AU - Gillespie, Andrea

AU - Fitzgibbon, Edmond J.

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