ArticleThe British journal of ophthalmology2004
Ophthalmological manifestations in segmental neurofibromatosis type 1.
Article in The British journal of ophthalmology, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.
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Who cites it
14 citing papers in PubMed, 1 synthesis or guideline pooled it, 62 citations in OpenAlex.
- Neurofibromatosis type 1 in genetic counseling practice: recommendations of the National Society of Genetic Counselors.Journal of genetic counseling · 2007Guideline
- Cancer predisposition in pediatric neuro-oncology-practical approaches and ethical considerations.Neuro-oncology practice · 2021Review
- Molecular Diagnosis of Neurofibromatosis by Multigene Panel Testing.Frontiers in genetics · 2021Article
- Neurocutaneous melanocytosis (melanosis).Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2020Article
- Introduction to phacomatoses (neurocutaneous disorders) in childhood.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2020Article
- Systemic and ocular manifestations of a patient with mosaic ARID1A-associated Coffin-Siris syndrome and review of select mosaic conditions with ophthalmic manifestations.American journal of medical genetics. Part C, Seminars in medical genetics · 2020Review
- A mosaic pattern of INI1/SMARCB1 protein expression distinguishes Schwannomatosis and NF2-associated peripheral schwannomas from solitary peripheral schwannomas and NF2-associated vestibular schwannomas.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2017Article
- Early history of neurofibromatosis type 2 and related forms: earliest descriptions of acoustic neuromas, medical curiosities, misconceptions, landmarks and the pioneers behind the eponyms.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2017Article
- Neurofibromatosis Type 1 Presenting with Ophthalmic Features: A Case Series.Journal of clinical and diagnostic research : JCDR · 2016Article
- An Update on the Ophthalmologic Features in the Phakomatoses.Journal of ophthalmology · 2016Review
- Neurofibromatosis: an update of ophthalmic characteristics and applications of optical coherence tomography.Clinical ophthalmology (Auckland, N.Z.) · 2016Review
- Visual field loss in children with craniosynostosis.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2011Article
- Novel and Unusual Retinal Findings in Two Patients with Neurofibromatosis Type 1.Case reports in ophthalmologyArticle
- Unusual Case of Indolent Choroidal Alterations Mimicking Neurofibromatosis Type 1.Case reports in ophthalmologyArticle
Corrections and comments
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Authors and funding
8 authors at 1 institution in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
aimsTo study the ophthalmological manifestations in individuals with the typical features of neurofibromatosis type 1 (NF1) circumscribed to one or more body segments, usually referred to as segmental NF1.
methodsVisual acuity and colour tests, visual field examination, slit lamp biomicroscopy of the anterior segment, and a detailed examination of the retina by indirect ophthalmoscopy were performed at diagnosis and follow up in 72 consecutive subjects (29 males, 43 females; aged 1-64 years; mean age 14.6 years) seen at the university departments of paediatrics in Catania and Rome, Italy, during years 1990-2003, who had in restricted body areas: (1) typical pigmentary manifestations of NF1 (cafe au lait spots and freckling) only (n = 48); (2) NF1 pigmentary manifestations and neurofibromas alone (n = 2); (3) neurofibromas only (n = 15); and (4) plexiform neurofibromas only (n = 7).
resultsNone of the 72 patients had Lisch nodules in the iris irrespective of age at eye examination or hypertelorism (a "minor" NF1 feature) and none developed typical associated ophthalmological NF1 complications. An additional child had an isolated optic pathways glioma (OPG), which behaved both biologically and radiographically as an NF1 associated OPG.
conclusionsThis represents the first systematic study reporting on eye involvement in the largest series of individuals at different ages having segmental NF1. As one of the postulated mechanisms to explain segmental NF1 is somatic mosaicism for the NF1 gene (so far demonstrated only in two patients) the present findings could be explained either by the fact that the eye is too far from the mutated area with NF1 lesions in most cases or by the NF1 (or other "predisposing" or "cooperating") gene mutation restricted to too few cellular clones or to tissues embryologically different from the eye.
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