Supernormal Electro-Oculograms in Patients with Neurofibromatosis Type 1

Lubiński, Wojciech; Zajączek, Stanisław; Sych, Z; Penkala, Krzysztof; Palacz, O; Lubiński, Jan

doi:10.1186/1897-4287-2-4-193

Cited by 8 publications

(10 citation statements)

References 15 publications

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“…These authors reported a signi cative increase in the Arden indexes of the EOG test in NF1 patients, whereas there were no recorded abnormalities in the ash ERG examination. The reported EOG changes were attributed to calcium level variations caused by melanin abnormalities related to reduced expression of neuro bromin 32,33 .…”

Section: Discussionmentioning

confidence: 98%

“…Currently, there are no available studies in the literature investigating the value of mfERG in NF1 patients. Limited studies demonstrated retinal electrofunctional anomalies in NF1 regardless of the presence of OPGs, although the clinical meaning of these ndings is still unknown 32,33 . Lubiński et al performed electro-oculogram (EOG) and full-eld ash ERG evaluations in patients diagnosed with NF-1 and variable ocular manifestations including optic nerve gliomas (< 5%), and compared results to normal healthy controls 32,33 .…”

Section: Discussionmentioning

confidence: 99%

“…Limited studies demonstrated retinal electrofunctional anomalies in NF1 regardless of the presence of OPGs, although the clinical meaning of these ndings is still unknown 32,33 . Lubiński et al performed electro-oculogram (EOG) and full-eld ash ERG evaluations in patients diagnosed with NF-1 and variable ocular manifestations including optic nerve gliomas (< 5%), and compared results to normal healthy controls 32,33 . These authors reported a signi cative increase in the Arden indexes of the EOG test in NF1 patients, whereas there were no recorded abnormalities in the ash ERG examination.…”

Section: Discussionmentioning

confidence: 99%

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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: Discussionmentioning

confidence: 98%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Neuroretinal Dysfunction in Patients Affected by Neurofibromatosis Type 1

Moramarco

Lucchino

Mallone

et al. 2021

Preprint

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“…[21] On the other hand; in neurofibromatosis type 1 disease which includes hyperpigmented skin lesions, cutaneous and plexiform neurofibromas, Lisch nodules and optic gliomas, the Arden ratios of the EOG test were considerably higher. [22] Retina pigment epithelium is a monolayer of cells that are linked by tight junctions near the apical surface. These junctions separate the basal and apical membranes of the pigment epithelium, which have different ionic permeability characteristics that lead to the generation of a voltage across the cell.…”

Section: Discussionmentioning

confidence: 99%

The influence of iris color and retina pigment epithelium melanin on allergic rhinitis

Dereköy¹,

Kenar²,

Yavaş³

et al. 2016

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Allergic rhinitis is an increasingly common disorder which manifests itself with symptoms of itchy nose, rhinorrhea, sneezing and nasal congestion as a result of exposure of sensitized individuals to certain antigens. The release of vasoactive mediators such as histamine, leukotrienes, prostaglandins, cytokines and tryptase follows after allergens bind specific IgE on the surfaces of basophils and mast cells and they show their effects in nasal vasculature by their receptors to result in either vasoconstriction and vasodilatation. Alterations in vascular innervation can be one of the reasons in regards of the continuity of allergic rhinitis. [1] Normally, a constant release of noradrenaline is thought to Clinical Research

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“…The results of our recent studies in patients with other genetic disorders such as neurofibromatosis type I [10], retinoblastoma [11] and von HippelLindau disease [12] suggest that the earliest retinal changes might be detected by electrophysiological examinations.…”

Section: Introductionmentioning

confidence: 99%

Electro-Oculographic and Electroretinographic Studies in HNPCC Gene Mutation Carriers

Lubiński

Kurzawski²,

Suchy³

et al. 2003

Ophthalmic Res

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Purpose: To assess retinal function in HNPCC gene mutation carriers. Patients: 19 carriers (38 eyes) of HNPCC genes and controls. Methods: Electro-oculogram, standard flash electroretinogram and pattern electroretinogram (PERG) recordings were performed. Results: In the total group of HNPCC gene mutation carriers examined by oscillatory potentials, reduced amplitude (p < 0.0004) and increased latency (p < 0.04) of the O3 wave and increased latency (p < 0.02) of the O4 wave were found. In the subgroup of carriers with hMLH1 gene mutation, reduced amplitudes of the O3 (p < 0.0005) and O4 (p < 0.04) waves were identified. In the total group of HNPCC gene mutation carriers examined by PERG, reduced amplitudes of the P50 (p < 0.003), N95 (p < 0.02) and abnormal N95/P50 ratio (p < 0.02) were revealed. In the subgroup of hMLH1 gene mutation carriers, reduced amplitude of the P50 (p < 0.04) and abnormal N95/P50 ratio (p < 0.02) were observed, whereas in the hMSH2 gene mutation carrier subgroup, reduced amplitude (p < 0.03), shortened latency of the P50 wave (p < 0.02) and reduced amplitude of the N95 wave (p < 0.03) were found. Conclusion: Constitutional dysfunction of the inner retina appears to be a characteristic feature of HNPCC gene mutation carriers.

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Supernormal Electro-Oculograms in Patients with Neurofibromatosis Type 1

Cited by 8 publications

References 15 publications

Neuroretinal Dysfunction in Patients Affected by Neurofibromatosis Type 1

Neuroretinal Dysfunction in Patients Affected by Neurofibromatosis Type 1

The influence of iris color and retina pigment epithelium melanin on allergic rhinitis

Electro-Oculographic and Electroretinographic Studies in HNPCC Gene Mutation Carriers

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