Incidental finding of a pathogenic mosaicism in the NF1 gene detected by near infrared fundus imaging - a case report.

Abstract excerpt

BACKGROUND: Neurofibromatosis type 1 is an autosomal dominant disorder predisposing to numerous tumors. Sporadic mutations account for half of the cases. They can occur on a mosaic pattern, which might remain undiagnosed, depending on the clinical phenotype. MATERIALS AND METHODS: We carried out an extended ophthalmological assessment followed by a neurological examination as well as a cardiovascular and an...

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