PMID- 36553143
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20230308
IS  - 2075-4418 (Print)
IS  - 2075-4418 (Electronic)
IS  - 2075-4418 (Linking)
VI  - 12
IP  - 12
DP  - 2022 Dec 12
TI  - Retinal and Visual Pathways Involvement in Carriers of Friedreich's Ataxia.
LID - 10.3390/diagnostics12123135 [doi]
LID - 3135
AB  - 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 t-test. Pearson's test was used to investigate 
      the morpho-functional correlations. Statistically significant differences (p < 
      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 (p > 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.
FAU - Ziccardi, Lucia
AU  - Ziccardi L
AUID- ORCID: 0000-0002-5563-1243
AD  - IRCCS-Fondazione Bietti, Via Livenza 1, 00198 Rome, Italy.
FAU - Barbano, Lucilla
AU  - Barbano L
AD  - IRCCS-Fondazione Bietti, Via Livenza 1, 00198 Rome, Italy.
FAU - Antonelli, Giulio
AU  - Antonelli G
AUID- ORCID: 0000-0002-5200-6071
AD  - IRCCS-Fondazione Bietti, Via Livenza 1, 00198 Rome, Italy.
FAU - Cioffi, Ettore
AU  - Cioffi E
AUID- ORCID: 0000-0002-9720-1065
AD  - Department of Medical and Surgical Sciences and Biotechnologies, Sapienza 
      University of Rome, 00185 Rome, Italy.
FAU - Di Renzo, Antonio
AU  - Di Renzo A
AD  - IRCCS-Fondazione Bietti, Via Livenza 1, 00198 Rome, Italy.
FAU - Gioiosa, Valeria
AU  - Gioiosa V
AD  - Department of Medical and Surgical Sciences and Biotechnologies, Sapienza 
      University of Rome, 00185 Rome, Italy.
FAU - Marcotulli, Christian
AU  - Marcotulli C
AD  - Department of Medical and Surgical Sciences and Biotechnologies, Sapienza 
      University of Rome, 00185 Rome, Italy.
FAU - Grzybowski, Andrzej
AU  - Grzybowski A
AUID- ORCID: 0000-0002-3724-2391
AD  - Department of Ophthalmology, University of Warmia and Mazury, Michala 
      Oczapowskiego 2, 10455 Olsztyn, Poland.
AD  - Institute for Research in Ophthalmology, Foundation for Ophthalmology 
      Development, Mickiewicza 24/3B, 60-836 Poznan, Poland.
FAU - Casali, Carlo
AU  - Casali C
AD  - Department of Medical and Surgical Sciences and Biotechnologies, Sapienza 
      University of Rome, 00185 Rome, Italy.
FAU - Parisi, Vincenzo
AU  - Parisi V
AD  - IRCCS-Fondazione Bietti, Via Livenza 1, 00198 Rome, Italy.
LA  - eng
PT  - Journal Article
DEP - 20221212
PL  - Switzerland
TA  - Diagnostics (Basel)
JT  - Diagnostics (Basel, Switzerland)
JID - 101658402
PMC - PMC9777201
OTO - NOTNLM
OT  - ERG
OT  - Friedreich
OT  - OCT
OT  - PERG
OT  - VEP
OT  - ataxia
OT  - carriers
OT  - mfERG
COIS- The authors declare no conflict of interest.
EDAT- 2022/12/24 06:00
MHDA- 2022/12/24 06:01
PMCR- 2022/12/12
CRDT- 2022/12/23 01:19
PHST- 2022/11/12 00:00 [received]
PHST- 2022/12/07 00:00 [revised]
PHST- 2022/12/08 00:00 [accepted]
PHST- 2022/12/23 01:19 [entrez]
PHST- 2022/12/24 06:00 [pubmed]
PHST- 2022/12/24 06:01 [medline]
PHST- 2022/12/12 00:00 [pmc-release]
AID - diagnostics12123135 [pii]
AID - diagnostics-12-03135 [pii]
AID - 10.3390/diagnostics12123135 [doi]
PST - epublish
SO  - Diagnostics (Basel). 2022 Dec 12;12(12):3135. doi: 10.3390/diagnostics12123135.