Retinal and Visual Pathways Involvement in Carriers of Friedreich’s Ataxia
Friedreich’s ataxia (FRDA) is a rare autosomal recessive neurodegenerative disorder due to the homozygous pathological expansion of guanine-adenine-adenine (GAA) triplet repeats in the first intron of the FXN gene, which encodes for the mitochondrial protein frataxin. In the visual system, the typic...
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MDPI AG
2022-12-01
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| Series: | Diagnostics |
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| Online Access: | https://www.mdpi.com/2075-4418/12/12/3135 |
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| author | Lucia Ziccardi Lucilla Barbano Giulio Antonelli Ettore Cioffi Antonio Di Renzo Valeria Gioiosa Christian Marcotulli Andrzej Grzybowski Carlo Casali Vincenzo Parisi |
| author_facet | Lucia Ziccardi Lucilla Barbano Giulio Antonelli Ettore Cioffi Antonio Di Renzo Valeria Gioiosa Christian Marcotulli Andrzej Grzybowski Carlo Casali Vincenzo Parisi |
| author_sort | Lucia Ziccardi |
| collection | DOAJ |
| description | Friedreich’s ataxia (FRDA) is a rare autosomal recessive neurodegenerative disorder due to the homozygous pathological expansion of guanine-adenine-adenine (GAA) triplet repeats in the first intron of the FXN gene, which encodes for the mitochondrial protein frataxin. In the visual system, the typical manifestations are ocular motility abnormality, optic neuropathy, and retinopathy. Despite the evidence of ophthalmological impairment in FRDA patients, there is a lack of information about the morpho-functional condition of the retina and of the optic pathways in healthy heterozygous carriers of Friedreich’s ataxia (C-FRDA). Ten C-FRDA subjects (providing 20 eyes) and thirty-five Controls (providing 70 eyes) underwent a complete neurological and ophthalmological examination comprehensive of functional (full-field Electroretinogram (ffERG), multifocal Electroretinogram (mfERG), Visual Evoked Potential (VEP), and Pattern Reversal Electroretinogram (PERG)) and morphological assessments (Optical Coherence Tomography, OCT) of the retina, macula, retinal ganglion cells, and visual pathways. The groups’ data were compared using a two-sample <i>t</i>-test. Pearson’s test was used to investigate the morpho-functional correlations. Statistically significant differences (<i>p</i> < 0.01) between C-FRDA and Control eyes for the values of the following parameters were found: ffERG b-wave amplitude, mfERG Response Amplitude Densities, PERG P50 implicit time and P50-N95 amplitude, VEP P100 implicit time, Retinal Nerve Fiber Layer (RNFL) Overall, and Nasal thickness. The values of the OCT macular volume were not statistically different (<i>p</i> > 0.01) between the two Groups. Therefore, our data suggest that, in C-FRDA, a dysfunction of retinal elements without morphological macular impairment may occur. In addition, a morphological impairment of RNFL associated with an abnormal neural conduction along the visual pathways can be also detected. |
| first_indexed | 2024-03-09T17:08:22Z |
| format | Article |
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| institution | Directory Open Access Journal |
| issn | 2075-4418 |
| language | English |
| last_indexed | 2024-03-09T17:08:22Z |
| publishDate | 2022-12-01 |
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| record_format | Article |
| series | Diagnostics |
| spelling | doaj.art-6e04901cd6a840109070b30e04ae55bd2023-11-24T14:19:19ZengMDPI AGDiagnostics2075-44182022-12-011212313510.3390/diagnostics12123135Retinal and Visual Pathways Involvement in Carriers of Friedreich’s AtaxiaLucia Ziccardi0Lucilla Barbano1Giulio Antonelli2Ettore Cioffi3Antonio Di Renzo4Valeria Gioiosa5Christian Marcotulli6Andrzej Grzybowski7Carlo Casali8Vincenzo Parisi9IRCCS—Fondazione Bietti, Via Livenza 1, 00198 Rome, ItalyIRCCS—Fondazione Bietti, Via Livenza 1, 00198 Rome, ItalyIRCCS—Fondazione Bietti, Via Livenza 1, 00198 Rome, ItalyDepartment of Medical and Surgical Sciences and Biotechnologies, Sapienza University of Rome, 00185 Rome, ItalyIRCCS—Fondazione Bietti, Via Livenza 1, 00198 Rome, ItalyDepartment of Medical and Surgical Sciences and Biotechnologies, Sapienza University of Rome, 00185 Rome, ItalyDepartment of Medical and Surgical Sciences and Biotechnologies, Sapienza University of Rome, 00185 Rome, ItalyDepartment of Ophthalmology, University of Warmia and Mazury, Michała Oczapowskiego 2, 10455 Olsztyn, PolandDepartment of Medical and Surgical Sciences and Biotechnologies, Sapienza University of Rome, 00185 Rome, ItalyIRCCS—Fondazione Bietti, Via Livenza 1, 00198 Rome, ItalyFriedreich’s ataxia (FRDA) is a rare autosomal recessive neurodegenerative disorder due to the homozygous pathological expansion of guanine-adenine-adenine (GAA) triplet repeats in the first intron of the FXN gene, which encodes for the mitochondrial protein frataxin. In the visual system, the typical manifestations are ocular motility abnormality, optic neuropathy, and retinopathy. Despite the evidence of ophthalmological impairment in FRDA patients, there is a lack of information about the morpho-functional condition of the retina and of the optic pathways in healthy heterozygous carriers of Friedreich’s ataxia (C-FRDA). Ten C-FRDA subjects (providing 20 eyes) and thirty-five Controls (providing 70 eyes) underwent a complete neurological and ophthalmological examination comprehensive of functional (full-field Electroretinogram (ffERG), multifocal Electroretinogram (mfERG), Visual Evoked Potential (VEP), and Pattern Reversal Electroretinogram (PERG)) and morphological assessments (Optical Coherence Tomography, OCT) of the retina, macula, retinal ganglion cells, and visual pathways. The groups’ data were compared using a two-sample <i>t</i>-test. Pearson’s test was used to investigate the morpho-functional correlations. Statistically significant differences (<i>p</i> < 0.01) between C-FRDA and Control eyes for the values of the following parameters were found: ffERG b-wave amplitude, mfERG Response Amplitude Densities, PERG P50 implicit time and P50-N95 amplitude, VEP P100 implicit time, Retinal Nerve Fiber Layer (RNFL) Overall, and Nasal thickness. The values of the OCT macular volume were not statistically different (<i>p</i> > 0.01) between the two Groups. Therefore, our data suggest that, in C-FRDA, a dysfunction of retinal elements without morphological macular impairment may occur. In addition, a morphological impairment of RNFL associated with an abnormal neural conduction along the visual pathways can be also detected.https://www.mdpi.com/2075-4418/12/12/3135FriedreichataxiacarriersERGmfERGVEP |
| spellingShingle | Lucia Ziccardi Lucilla Barbano Giulio Antonelli Ettore Cioffi Antonio Di Renzo Valeria Gioiosa Christian Marcotulli Andrzej Grzybowski Carlo Casali Vincenzo Parisi Retinal and Visual Pathways Involvement in Carriers of Friedreich’s Ataxia Diagnostics Friedreich ataxia carriers ERG mfERG VEP |
| title | Retinal and Visual Pathways Involvement in Carriers of Friedreich’s Ataxia |
| title_full | Retinal and Visual Pathways Involvement in Carriers of Friedreich’s Ataxia |
| title_fullStr | Retinal and Visual Pathways Involvement in Carriers of Friedreich’s Ataxia |
| title_full_unstemmed | Retinal and Visual Pathways Involvement in Carriers of Friedreich’s Ataxia |
| title_short | Retinal and Visual Pathways Involvement in Carriers of Friedreich’s Ataxia |
| title_sort | retinal and visual pathways involvement in carriers of friedreich s ataxia |
| topic | Friedreich ataxia carriers ERG mfERG VEP |
| url | https://www.mdpi.com/2075-4418/12/12/3135 |
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