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Iris mammillations in type 1 neurofibromatosis
First Author: L. Alcalde Blanco SPAIN
Co Author(s): I. Cañas Zamarra A. Ortueta Olartecoechea J. Herranz Heras B. Alonso Martin C. Ruiz Arranz M. Gimeno Carrero
To describe the presentation of iris mammillations by reporting a case of a patient with iris mammillations and type 1 Neurofibromatosis where they can be confused with Lisch nodules.
Ophthalmology Department; Paediatric Ophtalmology Unit; Hospital Universitario 12 de Octubre, Madrid, Spain
An 11-year-old girl with Type 1 Neurofibromatosis (NF1) was referred to assess the presence of Lisch nodules. Her visual acuity was 20/20 and the intraocular pressure 11 mmHg in both eyes. The slit-lamp examination revealed Lisch nodules and multiple iris mammillations in both eyes, otherwise, the examination was unremarkable.
Iris mammillations are an occasional ocular finding rarely described in the literature. They are regularly spaced, villiform protuberances seen in part or the entire iris surface, usually unilateral and congenital. They can be associated to both ocular and systemic conditions and be a sign of intraocular malignancy. They are sometimes confused with Lisch nodules appearing in NF1. Some features can help to differentiate them: the nodules seen in NF1 are fluffier in appearance, tend to be more irregularly distributed on the iris surface, are more variable in size and number and tend to be often lighter than the underlying iris.
Despite not being a risk for the anatomy or function of the eye themselves, it is important to recognize this finding as patients need to be followed-up due to their association with systemic diseases and to rule out the presence or development of glaucoma or intraocular tumors. Our patient remains ophthalmologically asymptomatic in the follow-up.
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