Purpose: To examine whether image processing of non-mydriatic DRI Triton SS-OCT (Topcon Corporation, Tokyo, Japan) using the red free filter could assess the presence of choroidal nodules and thus include their detection as a diagnostic criterion in neurofibromatosis type 1 (NF1).
Material And Methods: We included 417 eyes from 210 patients, 377 - from 190 patients diagnosed with NF1 according to the criteria established by the National Institutes of Health Consensus Development Conference (NIH) and 40 from 20 healthy patients as a control group. The mean age was 9.4 years (range 2 years-18 years). All patients had their visual acuity measured by a test according to age, were examined for the presence of lisch nodules and an Optical Coherence Tomography (OCT) of the macular area was performed. All the OCT images were analysed to check if visible nodules could be identified.
Results: Ages 14 (95% CI=(9.7,18.3)) and 12 years (95% CI=(9.1,14)) are the cut-off points that best separate those with choroidal nodules with Triton OCT and lisch with slit lamp, respectively, from those without. lisch nodules were detected in 50% of cases of NF1 patients. The presence of choroidal nodules did not present a statistically significant correlation with the occurrence of optic pathway glioma (p = 0.96) nor with the patient's visual worsening (p = 0.072). A statistically significant correlation was observed between the presence of choroidal nodules and the presence of lisch nodules (p < 0.05).
Conclusion: The Topcon Triton OCT red free tool would not be a good tool to detect choroidal nodules in patients with NF1 because of its low sensitivity. If the presence of choroidal nodules were to be included in the diagnostic criteria for NF1, it would be convenient to use a device with red and infrared radiations.
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http://dx.doi.org/10.1016/j.heliyon.2024.e29263 | DOI Listing |
Retina
January 2025
Manchester Royal Eye Hospital, Manchester University NHS Foundation Trust, United Kingdom.
Purpose: The objective of this study was to add to the limited literature of Focal Scleral Nodule (FSN).
Methods: This study was a single-centre, retrospective, observational case series performed at Manchester Royal Eye Hospital (United Kingdom). Nineteen eyes from nineteen patients over a thirteen year period (January 2011 to January 2024) were included.
Cureus
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 PDFSurg Case Rep
November 2024
Department of Surgery and Science, Graduate School of Medical Sciences, Kyushu University, Fukuoka, 812-8582, Japan.
Introduction: Malignant melanomas occur most commonly in the skin, mucous membranes, or choroid. Clitoral malignant melanomas are extremely rare. Stage IV malignant melanomas have a poor prognosis, and molecularly targeted agents or immune checkpoint inhibitors are recommended.
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