The absence that makes the difference: choroidal abnormalities in Legius syndrome

Arianna Tucci, Veronica Saletti, Francesca Menni, Claudia Cesaretti, Giulietta Scuvera, Silvia Esposito, Giulia Melloni, Susanna Esposito, Donatella Milani, Cristina Cereda, Mario Cigada, Laura Tresoldi, Francesco Viola, Federica Natacci

Research output: Contribution to journalArticle

Abstract

Neurofibromatosis type 1 (NF1) is an hereditary disorder characterized by abnormal proliferation of multiple tissues of neural crest origin, and presents mainly with multiple café-au-lait macules, axillary freckling and neurofibromas. Choroidal involvement in NF1 patients has been studied, thanks to the development of non-invasive tools such as infrared monochromatic light during fundus examination, which showed bright patchy lesions consistent with choroidal nodules. Choroidal abnormalities identified with near-infrared reflectance have reported with a frequency of up to 100% in NF1, and have been recently been proposed as a novel diagnostic criterion for NF1. Legius syndrome can be clinically indistinguishable from NF1 and results in a small percentage of individuals being misdiagnosed. We investigated the presence of choroidal abnormalities in Legius syndrome to determine their specificity to NF1 and their potential usefulness as a novel diagnostic criterion for NF1. We examined the fundus of 16 eyes by confocal scanning laser ophthalmoscopy with infrared monochromatic light in eight patients with molecularly confirmed Legius syndrome. No abnormalities were observed, confirming the diagnostic value of choroidal abnormalities for the diagnosis of NF1.

Original languageEnglish
Pages (from-to)1001-1004
Number of pages4
JournalJournal of Human Genetics
Volume62
Issue number11
DOIs
Publication statusPublished - Nov 2017

Keywords

  • Journal Article

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