scholarly journals Unusual Case of Indolent Choroidal Alterations Mimicking Neurofibromatosis Type 1

2020 ◽  
Vol 11 (2) ◽  
pp. 167-173
Author(s):  
Solmaz Abdolrahimzadeh ◽  
Martina Formisano ◽  
Fabio Guglielmelli ◽  
Stefano Amodeo ◽  
Maria Carmela Costa ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Near Infrared ◽  
Enzyme Level ◽  
Somatic Mosaicism ◽  
Anterior Segment ◽  
Neurofibromatosis Type ◽  
Enhanced Depth Imaging ◽  
Ophthalmological Examination ◽  
Near Infrared Reflectance

Indolent, non-progressive choroidal alterations can be strongly suggestive of neurofibromatosis type 1 (NF1) but are also rarely of unknown aetiology. A 63-year-old man presented for a routine examination. Comprehensive ophthalmological examination and retinal imaging was performed. Visual acuity was 20/20. The anterior segment and fundus were unremarkable. Near-infrared reflectance (NIR) with spectral-domain optical coherence tomography showed unilateral hyperreflective areas in the left posterior pole, corresponding to choroidal nodules on enhanced depth imaging and hypofluorescent areas on indocyanine green angiography. Dermatological evaluation and genetic testing for NF1 were negative. Chest computed tomography, liver function, HLA-A29, and angiotensin-converting enzyme level were negative. The patient has remained in good health and the choroidal alterations have remained non-progressive for 3 years. Choroidal alterations observed with NIR could be a manifestation of somatic mosaicism or a variation of a new unclassified correlated condition that may be better elucidated in the future, given the use of novel imaging techniques that are currently available in ophthalmology.

Choroidal abnormalities in neurofibromatosis type 1 detected by near-infrared reflectance imaging in paediatric population

2015 ◽  
Vol 93 (8) ◽  
pp. e667-e671 ◽  
Author(s):  
Aldo Vagge ◽  
Paola Camicione ◽  
Cristina Capris ◽  
Carlo Sburlati ◽  
Simona Panarello ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Near Infrared ◽  
Neurofibromatosis Type ◽  
Paediatric Population ◽  
Infrared Reflectance ◽  
Near Infrared Reflectance

Optical coherence tomography angiography of choroidal nodules in neurofibromatosis type-1: A case series

2021 ◽  
pp. 112067212110307
Author(s):  
Francisco Javier Moreno-Morillo ◽  
José Ignacio Fernández-Vigo ◽  
Bárbara Burgos-Blasco ◽  
Carlos Llorente-La Orden ◽  
Beatriz Vidal-Villegas ◽  
...  
Keyword(s):  
Optical Coherence Tomography ◽  
Neurofibromatosis Type 1 ◽  
Optical Coherence Tomography Angiography ◽  
Case Series ◽  
Neurofibromatosis Type ◽  
Vessel Density ◽  
Enhanced Depth Imaging ◽  
Optical Coherence ◽  
Near Infrared Reflectance

Purpose: To describe optical coherence tomography angiography (OCTA) findings in the retina and choroid of patients with neurofibromatosis type 1 (NF1). Methods: We describe a series of four patients diagnosed with NF1 and choroidal nodules who underwent a comprehensive ophthalmic evaluation including a retinal multimodal imaging study based on retinography, near-infrared reflectance imaging (NIR), enhanced depth imaging (EDI) optical coherence tomography (OCT) and OCTA. Results: Patients were three women and one man aged 36–47 years. In all patients, the choroidal nodules were not visible in retinographies but easily detectable with NIR, appearing as multiple bright patches. On OCTA, we observed reduced vessel density in the choriocapillaris in zones where choroidal nodules appeared in OCT images. In one patient, a corkscrew vessel was visible in the superficial capillary plexus. Conclusion: Choriocapillaris vessel density was reduced in zones where choroidal nodules occur in NF1 patients. Further work is needed to clarify the clinical relevance of this finding.

scholarly journals Improving detection level of somatic mosaicism in neurofibromatosis type 1

2019 ◽  
Vol 30 ◽  
pp. v23-v24
Author(s):  
K. Karandasheva ◽  
M. Pashchenko ◽  
A.S. Tanas ◽  
V.V. Strelnikov ◽  
E. Kuznetsova
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Somatic Mosaicism ◽  
Neurofibromatosis Type ◽  
Detection Level

Neuroretinal Dysfunction in Patients Affected by Neurofibromatosis Type 1

2021 ◽  
Author(s):  
Antonietta Moramarco ◽  
Luca Lucchino ◽  
Fabiana Mallone ◽  
Michela Marcelli ◽  
Ludovico Alisi ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Healthy Subjects ◽  
Cyclic Adenosine Monophosphate ◽  
Adenosine Monophosphate ◽  
Neurofibromatosis Type ◽  
Implicit Time ◽  
Control Group ◽  
Ophthalmological Examination ◽  
Significant Difference

Abstract The aim of the study was to examine neuroretinal function by using the mfERG test in patients with neurofibromatosis type 1 (NF1) without optic pathway gliomas (OPGs). This study was conducted on 35 patients (35 eyes) with NF1 and 30 healthy subjects (30 eyes) for the control group. Each subject underwent a complete ophthalmological examination including multifocal electroretinography (mfERG). 1.5-Tesla magnetic resonance imaging (MRI) scan of the brain was performed in NF1 patients to assess the presence of OPGs. All participants were recruited having a best corrected visual acuity (BCVA) of no less than 20/20 in each eye. The amplitude and implicit time of the P1 wave (first-order Kernel component) were evaluated on mfERG. Data analysis was carried out in the two central degrees and in the four quadrants from two to 25 degrees of visual field. Statistically significant results were obtained for the P1 wave amplitudes in the 4 quadrants in NF1 patients compared to healthy subjects, while the reduction was not significant in the 2 central degrees. A statistically significant difference was observed among the P1 wave amplitudes as recorded in the 4 quadrants within the NF1 group, with lower amplitudes in the nasal quadrants. No differences in the implicit times were recorded in the 4 quadrants and in the 2 central degrees as compared between NF1 patients and controls. The present study demonstrates impaired neuroretinal function in NF1 patients. Altered intracellular signal transduction due to abnormal neurofibromin-mediated cyclic adenosine monophosphate (cAMP) generation, could be involved. Our results suggest a possible use of mfERG as subclinical retinal damage indicator with a potential utility in clinical practice for the follow-up of NF1 patients.

scholarly journals An Update on the Ophthalmologic Features in the Phakomatoses

2016 ◽  
Vol 2016 ◽  
pp. 1-15 ◽  
Author(s):  
Solmaz Abdolrahimzadeh ◽  
Andrea Maria Plateroti ◽  
Santi Maria Recupero ◽  
Alessandro Lambiase
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Neurofibromatosis Type 1 ◽  
Imaging Techniques ◽  
Neurofibromatosis Type ◽  
Treatment Modalities ◽  
Near Infrared Reflectance ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Disease

Neurofibromatosis type 1, tuberous sclerosis complex, and Von Hippel-Lindau disease, historically classified as the phakomatoses, are hereditary multisystem disorders characterized by the presence of hamartoma, which carry the risk of malignant transformation. The alteration of tumor suppressor genes seems to be at the basis of their pathophysiogenetic mechanism. Lisch and choroidal nodules in neurofibromatosis type 1, retinal astrocytomas in tuberous sclerosis complex, and retinal capillary hemangioma in Von Hippel-Lindau disease are the principal ophthalmic hamartomatous manifestations. The advent of novel imaging techniques such as near infrared reflectance and optical coherence tomography has provided unprecedented insight on the choroidal and retinal features of these diseases. These methods have improved early diagnosis and the ongoing surveillance in these conditions. Among an array of treatment modalities, antivascular endothelial growth factor therapy has been used in the management of retinal hamartomas but results have been varied. This review is an update on the pathophysiogenetic mechanisms, ophthalmic manifestations, and novel treatment strategies in the phakomatoses with emphasis on the role of imaging techniques.

scholarly journals Ophthalmological examination in neurofibromatosis type 1: a long-term retrospective analysis

2018 ◽  
Vol 96 (8) ◽  
pp. e1044-e1046 ◽  
Author(s):  
Catherine Cassiman ◽  
Annouschka Laenen ◽  
Sandra Jacobs ◽  
Philippe Demaerel ◽  
Eric Legius ◽  
...  
Keyword(s):  
Retrospective Analysis ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Ophthalmological Examination
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