The development of Lisch nodules in an eye that had undergone trabeculectomy with mitomycin C is described. Complete ophthalmologic examinations and genetic testing of a 12-year-old boy were performed. Lisch nodules can develop after trabeculectomy without the systemic manifestations of neurofibromatosis type 1.
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Biomedicines
January 2025
Department of Pediatric Dermatology, Heim Pal National Pediatric Institute, 1089 Budapest, Hungary.
Neurofibromatosis type 1 (NF1) is a complex neurocutaneous disorder caused by pathogenic variants in the gene. Although genotype-phenotype correlation studies are increasing, robust clinically relevant correlations have remained limited. We conducted a retrospective analysis of data obtained from a cohort of 204 Hungarian individuals, with a mean age of 16 years (age range: 1-33 years).
View Article and Find Full Text PDFCureus
December 2024
Radiology Department, King Khaled Eye Specialist Hospital, Riyadh, SAU.
Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic multisystem phakomatosis that can affect the skin, bones, and nervous system. NF1 typically presents with skin lesions, including freckles, café-au-lait macules, plexiform neurofibromas, and bony dysplasia, and is usually accompanied by a family history of the disorder. Ocular manifestations vary, but iris Lisch nodules and optic nerve gliomas are the most common features.
View Article and Find Full Text PDFOphthalmic Genet
December 2024
Department of Ophthalmology, Hôpital Intercommunal de Créteil, Créteil, France.
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.
View Article and Find Full Text PDFNeurofibromatosis type 1 (NF1) is one of the most common genetic conditions. It can be inherited in an autosomal dominant manner, but almost half of cases occur de novo. NF1 is associated with café-au-lait macules, freckles in the inguinal and axillary region, neurofibromas, Lisch nodules of the iris or choroidal abnormalities, optic pathway gliomas, and distinctive bone anomalies.
View Article and Find Full Text PDFJ Clin Ultrasound
November 2024
Department of Ultrasound, Renmin Hospital, Hubei University of Medicine, Shiyan, China.
Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder caused by mutations of the NF1 tumor suppressor gene, characterized by café-au-lait spots, neurofibromas, and Lisch nodules. Malignant peripheral nerve sheath tumor (MPNST) is an extremely rare malignancy with neural differentiation potential. The lifetime risk of developing MPNST in NF-1 patients is 8%-13%.
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