Near-infrared imaging: an in vivo, non-invasive diagnostic tool in neurofibromatosis type 1

Moramarco, Antonietta; Giustini, Sandra; Nofroni, Italo; Mallone, Fabiana; Miraglia, Emanuele; Iacovino, Chiara; Calvieri, Stefano; Lambìase, Alessandro

doi:10.1007/s00417-017-3870-z

Cited by 30 publications

(36 citation statements)

References 17 publications

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“…No pathologic alterations were identi able at mydriatic indirect fundus biomicroscopy exam in both the NF1 and HC group. At cross-sectional SD-OCT and NIR-OCT evaluation, 28 eyes out of 30 (93,3%) in the NF1 group showed the presence of choroidal nodules variously distributed to the posterior pole, whereas no choroidal abnormalities were recognizable in the HC group [19][20][21] . At MRI evaluation, no patient had optic nerve gliomas or other lesions involving the optic pathways.…”

Section: Resultsmentioning

confidence: 97%

Neuroretinal Dysfunction in Patients Affected by Neurofibromatosis Type 1

Moramarco

Lucchino

Mallone

et al. 2021

Preprint

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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.

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Section: Resultsmentioning

confidence: 97%

Neuroretinal Dysfunction in Patients Affected by Neurofibromatosis Type 1

Moramarco

Lucchino

Mallone

et al. 2021

Preprint

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“…In a recent study of 160 NF1 patients, the sensitivity to detect Yasunari nodules (97 %) was higher than for Lisch nodules (86 %), whereas the specificity of either Lisch nodules or Yasunari nodules was 100 %. Furthermore, Yasunari nodules without Lisch nodules were reported in 13.75 % of patients, whereas the opposite (Lisch nodules without Yasunari nodules) was found in only 2.5 % of patients [11].…”

Section: (National Institutes Of Health Consensus Development Conferementioning

confidence: 87%

Yasunari Nodules: A New Sensitive and Specific Marker of Neurofibromatosis Type 1, Readily Detectable by Ophthalmologists

Safi

Borruat

2019

Klin Monatsbl Augenheilkd

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“…The electrophysiological examinations can, therefore, be considered, in the ophthalmologic field, a further useful tool for the study and monitoring of NF1 patients; adding to those already used in clinical practice such as the biomicroscopic examination of the anterior segment, the examination of the fundus oculi and OCT, which allow to identify some of the characteristic signs of the disease (Lisch nodules, microvascular anomalies and choroidal spots). [31][32][33][34] In conclusion, neurofibromatosis is a complex and heterogeneous disease that requires an integrated multidisciplinary approach. To fully understand all the aspects of this complex pathology it is necessary to continue the studies, expanding the sample under examination and promoting an interdisciplinary work that involves the collaboration of different professional figures, among whom the ophthalmologist can play a key role.…”

Section: Discussionmentioning

confidence: 99%

<p>Neurofibromatosis Type 1: Ocular Electrophysiological and Perimetric Anomalies</p>

Nebbioso

Moramarco

Lambìase

et al. 2020

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Introduction: Neurofibromatosis type 1 (NF1) is a multisystemic disease caused by the mutation of Nf1 gene located on chromosome 17q11.2. The mutation determines the loss of function of the protein neurofibromin with consequent uncontrolled cellular proliferation. Patients are characterized by a wide range of dermatological, neurological, and ophthalmological symptoms. Purpose: The aim of the study was to evaluate, through pattern visual evoked potentials (p-VEPs) and frequency doubling technology (FDT) Matrix perimetry, the objective and psychophysical functionality of the optic pathways in a group of NF1 patient. Methods: The study group consisted of 26 patients affected by NF1 and 17 healthy controls. Each patient underwent a complete ophthalmological examination, p-VEPs with the evaluation of amplitude and latency of the P100 wave, and FDT perimetry, with the evaluation of central sensitivity (CS), mean deviation (MD), pattern standard deviation (PSD) and glaucoma hemifield test (GHT). Results: NF1 patients showed a statistically significant alteration in the transmission of visual impulse. P-VEPs results highlighted a reduced amplitude and an increased latency of the P100 wave, suggesting an involvement of the visual pathway. Visual field analysis showed a significant reduction in all the observed parameters as well (CS, MD, PSD, and GHT). Conclusion: The present study showed, in NF1 patients, a qualitative and quantitative alteration in the conduction of stimuli through the visual pathways. The observed alterations are present, although, only at a subclinical level. None of the patients included in the study showed any manifest visual deficit nor had any concomitant pathology that might have affected the outcome of the study. In conclusion, electrophysiological exams and computer perimetry may take part, alongside a wider array of exams, in the differential diagnosis and later monitoring of NF1.

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Near-infrared imaging: an in vivo, non-invasive diagnostic tool in neurofibromatosis type 1

Abstract: NIR imaging represents an in vivo, non-invasive, sensitive and reproducible exam to detect choroidal nodules in NF-1 patients, suggesting that choroidal changes may represent an additional diagnostic criteria for NF1.

Cited by 30 publications

References 17 publications

Neuroretinal Dysfunction in Patients Affected by Neurofibromatosis Type 1

Neuroretinal Dysfunction in Patients Affected by Neurofibromatosis Type 1

Yasunari Nodules: A New Sensitive and Specific Marker of Neurofibromatosis Type 1, Readily Detectable by Ophthalmologists

<p>Neurofibromatosis Type 1: Ocular Electrophysiological and Perimetric Anomalies</p>

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