Introduction: Gorlin-Goltz syndrome (GGS) also known as nevoid basal cell carcinoma syndrome (NBCCS) is a complex rare genetic disorder characterized by a wide range of clinical and radiological manifestations. Ophthalmological alterations have always been reported, but no study on the eventual pattern visual evoked potentials (pVEPs) abnormalities has yet been published.Purpose: The purpose of the study was to evaluate the functionality of the optic pathways in a group of NBCCS patients through pattern reversal VEPs, after a thorough exclusion of subjects with preexisting ocular and optic pathways pathologies.Methods: Nineteen NBCCS patients (31 eyes) and 20 healthy controls (40 eyes) have been recruited for this study. All subjects underwent an evaluation of the functionality of the optic pathways through pVEPs with small (120'), medium (60'), and large (15') check size stimulation.Results: NBCCS patients showed a statistically significant alteration in the transmission of the macular pathway function when compared to controls. PVEPs analysis confirmed a reduced amplitude and an increased latency of the P100 component, suggesting an involvement of the visual pathway even in the absence of ocular clinical manifestations.Conclusion: Visual pathways may have been affected both by a subclinical myelination deficit, determined directly by the genetic alteration, as well as by neurological abnormalities typical of this syndrome. Further studies are warranted.

Electrophysiological study of visual pathways in nevoid basal cell carcinoma syndrome patients / Moramarco, Antonietta; Alisi, Ludovico; Lambiase, Alessandro; Giustini, Sandra; Lucchino, Luca; Miraglia, Emanuele; Roberti, Vincenzo; Nebbioso, Marcella. - In: EYE AND BRAIN. - ISSN 1179-2744. - 13:(2021), pp. 71-78. [10.2147/EB.S281135]

Electrophysiological study of visual pathways in nevoid basal cell carcinoma syndrome patients

Moramarco, Antonietta
Primo
Conceptualization
;
Alisi, Ludovico
Secondo
Writing – Review & Editing
;
Lambiase, Alessandro
Methodology
;
Giustini, Sandra
Membro del Collaboration Group
;
Lucchino, Luca
Resources
;
Miraglia, Emanuele
Software
;
Roberti, Vincenzo
Penultimo
Formal Analysis
;
Nebbioso, Marcella
Ultimo
Writing – Review & Editing
2021

Abstract

Introduction: Gorlin-Goltz syndrome (GGS) also known as nevoid basal cell carcinoma syndrome (NBCCS) is a complex rare genetic disorder characterized by a wide range of clinical and radiological manifestations. Ophthalmological alterations have always been reported, but no study on the eventual pattern visual evoked potentials (pVEPs) abnormalities has yet been published.Purpose: The purpose of the study was to evaluate the functionality of the optic pathways in a group of NBCCS patients through pattern reversal VEPs, after a thorough exclusion of subjects with preexisting ocular and optic pathways pathologies.Methods: Nineteen NBCCS patients (31 eyes) and 20 healthy controls (40 eyes) have been recruited for this study. All subjects underwent an evaluation of the functionality of the optic pathways through pVEPs with small (120'), medium (60'), and large (15') check size stimulation.Results: NBCCS patients showed a statistically significant alteration in the transmission of the macular pathway function when compared to controls. PVEPs analysis confirmed a reduced amplitude and an increased latency of the P100 component, suggesting an involvement of the visual pathway even in the absence of ocular clinical manifestations.Conclusion: Visual pathways may have been affected both by a subclinical myelination deficit, determined directly by the genetic alteration, as well as by neurological abnormalities typical of this syndrome. Further studies are warranted.
Gorlin-Goltz syndrome; PATCH1; electrophysiology; genodermatosis; nevoid basal cell carcinoma syndrome; pattern visual evoked potentials; rare diseases; visual pathway
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Electrophysiological study of visual pathways in nevoid basal cell carcinoma syndrome patients / Moramarco, Antonietta; Alisi, Ludovico; Lambiase, Alessandro; Giustini, Sandra; Lucchino, Luca; Miraglia, Emanuele; Roberti, Vincenzo; Nebbioso, Marcella. - In: EYE AND BRAIN. - ISSN 1179-2744. - 13:(2021), pp. 71-78. [10.2147/EB.S281135]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/1533641
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