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Klin Monbl Augenheilkd 2019; 236(04): 480-482
DOI: 10.1055/a-0829-6725
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Georg Thieme Verlag KG Stuttgart · New York

Yasunari Nodules: A New Sensitive and Specific Marker of Neurofibromatosis Type 1, Readily Detectable by Ophthalmologists

Yasunari nodules: ein neues sensitives und spezifisches Zeichen der Neurofibromatose Typ 1
Antoine Safi
Jules Gonin Eye Hospital, University of Lausanne, Neuro-Ophthalmology Unit, Lausanne, Switzerland
,
François-Xavier Borruat
Jules Gonin Eye Hospital, University of Lausanne, Neuro-Ophthalmology Unit, Lausanne, Switzerland
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Publication History

received 21 September 2018

accepted 29 December 2018

Publication Date:
18 April 2019 (online)

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Introduction

Neurofibromatosis type I (NF1) is an autosomal dominant disease caused by a defect in a single gene (NF1) on chromosome 17q11.2 [1]. However, the rate of new mutations is about 1/10 000 births, accounting for nearly half of NF1 cases [2]. Amongst the general population, the incidence of NF1 is around 1/3000 people [3]. The diagnosis of NF1 rests upon clinical findings and specific diagnostic criteria have been defined ([Table 1]). The presence of at least two criteria is needed to diagnose NF-1 [4]. Genetic testing is reserved for procreation decisions, when NF1 is suspected but not clinically confirmed [5]. The ophthalmic manifestations of NF1 include Lisch nodules, choroidal hamartomas, neurofibromas on eyelids, presumed conjunctival neurofibroma, prominent corneal nerves, glial tissue overlying optic disc, and optic pathway glioma [6]. Only Lisch nodules and optic pathway glioma are ophthalmic clinical criteria accounting for the diagnosis of NF1.

 

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