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  • Title: Ectropion Uveae in neurofibromatosis type 1: a new manifestation.
    Author: Iacovino C, Miraglia E, Moramarco A, Corbo G, Lambiase A, Giustini S.
    Journal: Clin Ter; 2021 May 05; 172(3):206-208. PubMed ID: 33956037.
    Abstract:
    Neurofibromatosis type 1 (NF1) is a rare genetic disorder with an autosomal dominant transmission and an estimated incidence of 1:2500-3500 live birth. Penetrance is virtually 100%, but the expression is highly variable and almost every organ can be affected. Diagnosis of NF1 is made with at least two of the following diagnostic criteria: six or more cafè-au-lait spots, two neurofibromas or one plexiform neurofibroma, axillary or groin freckling, optic glioma, two Lisch nodules, bone dysplasia and first-degree relative with NF1. Other ocular manifestations include orbital neurofibromas, cafè-au-lait spots on the eyelids, congenital dysplasia of the sphenoids wing and con-genital glaucoma and choroidal abnormalities. Congenital Ectropion Uveae (CEU) is a rare, non-progressive anomaly characterized by the presence of iris pigment epithelium on the anterior surface of the iris stroma, resulting from its proliferation. CEU probably depends on embryological disorders in neural cells and/or neuroectoderm of the optic cell. In this paper the authors describe three patients with CEU and NF1 found in 243 consecutive NF1 patients.
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