Literature DB >> 35601162

Neuroretinal dysfunction in patients affected by neurofibromatosis type 1.

Antonietta Moramarco1, Luca Lucchino1, Fabiana Mallone1, Michela Marcelli1, Ludovico Alisi1, Vincenzo Roberti2, Sandra Giustini2, Alessandro Lambiase1, Marcella Nebbioso1.   

Abstract

AIM: To examine neuroretinal function by using the multifocal electroretinography (mfERG) test in patients with neurofibromatosis type 1 (NF1) without optic pathway gliomas (OPGs).
METHODS: 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 spectral domain-optical coherence tomography (SD-OCT) and mfERG. The 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.
RESULTS: Statistically significant results were obtained for the P1 wave amplitudes in the 4 quadrants in NF1 patients compared to healthy controls, while the reduction was not significant in the 2 central degrees between the groups. A statistically significant difference was observed among the P1 wave amplitudes as recorded in the 4 quadrants within the NF1 group, with lower amplitudes detected in the nasal quadrants. No differences in the implicit times were recorded in the 2 central degrees and in the 4 quadrants as compared between NF1 patients and controls.
CONCLUSION: Impaired neuroretinal function in NF1 patients is expressed in a decreased amplitude of the P1-wave between 2 and 25 central retinal degrees on mfERG. Altered intracellular signal transduction due to abnormal neurofibromin-mediated cyclic adenosine monophosphate (cAMP) generation, can be involved. The possible use of mfERG as subclinical retinal damage indicator has a potential utility in clinical practice for the follow-up of NF1 patients. International Journal of Ophthalmology Press.

Entities:  

Keywords:  multifocal electroretinography; neurofibromatosis type 1; neurofibromin; neuroretinal function; optic pathway gliomas

Year:  2022        PMID: 35601162      PMCID: PMC9091878          DOI: 10.18240/ijo.2022.05.13

Source DB:  PubMed          Journal:  Int J Ophthalmol        ISSN: 2222-3959            Impact factor:   1.645


  32 in total

1.  Near infrared fluorescence and OCT features of choroidal abnormalities in type 1 neurofibromatosis.

Authors:  Ali Ayata; Melih Unal; Dilaver Ersanli; Sinan Tatlipinar
Journal:  Clin Exp Ophthalmol       Date:  2008-05       Impact factor: 4.207

Review 2.  Ophthalmic manifestations in neurofibromatosis type 1.

Authors:  Michael Kinori; Nickisa Hodgson; Janice Lasky Zeid
Journal:  Surv Ophthalmol       Date:  2017-11-16       Impact factor: 6.048

3.  Ocular surface involvement in patients with neurofibromatosis type 1 syndrome.

Authors:  Antonietta Moramarco; M Sacchetti; F Franzone; M Segatto; D Cecchetti; E Miraglia; V Roberti; C Iacovino; S Giustini
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  2020-05-09       Impact factor: 3.117

4.  Choroidal abnormalities detected by near-infrared reflectance imaging as a new diagnostic criterion for neurofibromatosis 1.

Authors:  Francesco Viola; Edoardo Villani; Federica Natacci; Angelo Selicorni; Giulia Melloni; Diego Vezzola; Giulio Barteselli; Chiara Mapelli; Cesare Pirondini; Roberto Ratiglia
Journal:  Ophthalmology       Date:  2011-10-02       Impact factor: 12.079

5.  Detection and monitoring of subclinical ocular siderosis using multifocal electroretinogram.

Authors:  Pranita Sahay; Devesh Kumawat; Shikha Gupta; Koushik Tripathy; Rajpal Vohra; Mahesh Chandra; Pradeep Venkatesh
Journal:  Eye (Lond)       Date:  2019-04-24       Impact factor: 3.775

6.  Defective cAMP generation underlies the sensitivity of CNS neurons to neurofibromatosis-1 heterozygosity.

Authors:  Jacquelyn A Brown; Scott M Gianino; David H Gutmann
Journal:  J Neurosci       Date:  2010-04-21       Impact factor: 6.167

7.  Neurofibromatosis Type 1: Ocular Electrophysiological and Perimetric Anomalies.

Authors:  Marcella Nebbioso; Antonietta Moramarco; Alessandro Lambiase; Sandra Giustini; Marco Marenco; Emanuele Miraglia; Pasquale Fino; Chiara Iacovino; Ludovico Alisi
Journal:  Eye Brain       Date:  2020-10-21

8.  Optic gliomas in neurofibromatosis type 1: role of visual evoked potentials.

Authors:  K North; C Cochineas; E Tang; E Fagan
Journal:  Pediatr Neurol       Date:  1994-03       Impact factor: 3.372

Review 9.  Neurofibromatosis type 1: New developments in genetics and treatment.

Authors:  Britney N Wilson; Ann M John; Marc Zachary Handler; Robert A Schwartz
Journal:  J Am Acad Dermatol       Date:  2020-08-06       Impact factor: 11.527

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