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Eur J Paediatr Neurol. 2015 Jul;19(4):415-22. doi: 10.1016/j.ejpn.2015.03.002. Epub 2015 Mar 10.

Comparative study of the ophthalmological examinations in neurofibromatosis type 1. Proposal for a new screening algorithm.

Author information

1
Department of Ophthalmology, University Hospitals Leuven, KU Leuven, Campus Sint Rafaël, Kapucijnenvoer 33, 3000 Leuven, Belgium. Electronic address: sofie.caen@uzleuven.be.
2
Department of Ophthalmology, University Hospitals Leuven, KU Leuven, Campus Sint Rafaël, Kapucijnenvoer 33, 3000 Leuven, Belgium. Electronic address: catherine.cassiman@uzleuven.be.
3
Department of Human Genetics, University Hospitals Leuven, KU Leuven, Herestraat 49, 3000 Leuven, Belgium.
4
Department of Ophthalmology, University Hospitals Leuven, KU Leuven, Campus Sint Rafaël, Kapucijnenvoer 33, 3000 Leuven, Belgium.

Abstract

PURPOSE:

Efforts are made to unify the protocol concerning the ophthalmological screening, monitoring and treatment of Optic Pathway Gliomas (OPGs) in children with neurofibromatosis type 1 (NF1). The aim of this study is to compare the most recent recommendations published in 2007 with the screening strategies in NF1 centres. The integration of these data resulted into a recommendation for an improved screening strategy.

METHODS:

A literature search on PubMed between 1984 and 2013 was performed. A questionnaire on the ophthalmological screening in NF1 was sent to centres of expertise in the field of NF1. Literature and questionnaire data were analysed. Also, findings of a round table discussion on the ophthalmological screening of NF1 patients at the European Paediatric Ophthalmological Society (EPOS) meeting in 2013 were summarized.

RESULTS:

In most centres ophthalmological screening in NF1 patients is well organized, but is performed longer and at more regular intervals than is mentioned in the recommendations. Visual acuity testing, fundoscopy and pupillary reflexes are carried out unanimously.

CONCLUSIONS:

There is no uniformity of the ophthalmological screening in NF1 patients. The present recommendation advises to screen annually until the age of 8. Because OPGs are likely to develop before the age of 6 and children do not usually complain of visual problems, OPGs can be missed or detection can be delayed if screening is only yearly performed at this young age. Based on these arguments, about half of our responders screen more frequently and until a later age. Therefore, we suggest performing a six monthly screening until the age of 6 and a yearly examination from 6 years until adulthood. This examination should include visual acuity assessment, pupillary reflexes and a fundoscopy.

KEYWORDS:

Neurofibromatosis type 1; Ophthalmological screening; Optic pathway glioma; Von Recklinghausen disease

PMID:
25797697
DOI:
10.1016/j.ejpn.2015.03.002
[Indexed for MEDLINE]

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