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  1. Artikel ; Online: Photopic negative response using a handheld mini-ganzfeld stimulator in healthy adults: normative values, intra- and inter-session variability.

    Berezovsky, Adriana / Karanjia, Rustum / Fernandes, Arthur Gustavo / Botelho, Gabriel Izan Santos / Bueno, Tatiane Luana Novele / Ferraz, Nívea Nunes / Sacai, Paula Yuri / Coupland, Stuart Glenn / Sadun, Alfredo Arrigo / Salomão, Solange Rios

    Documenta ophthalmologica. Advances in ophthalmology

    2020  Band 142, Heft 2, Seite(n) 153–163

    Abstract: Purpose: To determine normative values, intra- and inter-session variability for a range of parameters derived from the photopic negative response (PhNR) using a handheld mini-Ganzfeld stimulator in healthy normal adults.: Methods: Light-adapted ... ...

    Abstract Purpose: To determine normative values, intra- and inter-session variability for a range of parameters derived from the photopic negative response (PhNR) using a handheld mini-Ganzfeld stimulator in healthy normal adults.
    Methods: Light-adapted flash full-field electroretinograms (ERGs) were recorded from healthy individuals with no visual complaints, visual acuity equal to or better than 0.0 logMAR (20/20 Snellen), and negative family history for visual diseases. ERGs were recorded from both eyes using a DTL
    Results: Normative limits for PhNR amplitude (µV) using 1, 5 and 7 cd.s./m2 stimuli were, respectively: 20.81; 18.06 and 19.60 for BT and 69.11; 77.98; 76.51 for PT. Peak times (ms) normative limits for 1, 5 and 7 cd.s/m2 intensities were, respectively, 65.98; 78.20 and 77.96. Overall, intra-session variability assessed by coefficients of variation ranged from 1.35 to 10.28%. Inter-session variability disclosed significant intraclass correlation values for all PhNR parameters only for 1 cd.s/m2 stimuli.
    Conclusions: The normative values provided by this study are clinically helpful in the diagnosis of inner retinal disorders, especially those affecting retinal ganglion cells such as glaucoma and other optic neuropathies. Further studies, including a larger sample with variable age range would extend the validity of the current results.
    Mesh-Begriff(e) Adolescent ; Adult ; Color Vision/physiology ; Electroretinography/methods ; Female ; Healthy Volunteers ; Humans ; Male ; Microelectrodes ; Middle Aged ; Observer Variation ; Photic Stimulation ; Reference Values ; Retina/physiology ; Retinal Ganglion Cells/physiology ; Young Adult
    Sprache Englisch
    Erscheinungsdatum 2020-07-17
    Erscheinungsland Netherlands
    Dokumenttyp Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 212594-8
    ISSN 1573-2622 ; 0012-4486
    ISSN (online) 1573-2622
    ISSN 0012-4486
    DOI 10.1007/s10633-020-09784-x
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  2. Artikel: Impaired Ganglion Cell Function Objectively Assessed by the Photopic Negative Response in Affected and Asymptomatic Members From Brazilian Families With Leber's Hereditary Optic Neuropathy.

    Botelho, Gabriel Izan Santos / Salomão, Solange Rios / Tengan, Célia Harumi / Karanjia, Rustum / Moura, Felipo Victor / Rocha, Daniel Martins / da Silva, Paula Baptista Eliseo / Fernandes, Arthur Gustavo / Watanabe, Sung Eun Song / Sacai, Paula Yuri / Belfort, Rubens / Carelli, Valerio / Sadun, Alfredo Arrigo / Berezovsky, Adriana

    Frontiers in neurology

    2021  Band 11, Seite(n) 628014

    Abstract: Purpose: ...

    Abstract Purpose:
    Sprache Englisch
    Erscheinungsdatum 2021-01-18
    Erscheinungsland Switzerland
    Dokumenttyp Journal Article
    ZDB-ID 2564214-5
    ISSN 1664-2295
    ISSN 1664-2295
    DOI 10.3389/fneur.2020.628014
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  3. Artikel: Medical management of hereditary optic neuropathies.

    La Morgia, Chiara / Carbonelli, Michele / Barboni, Piero / Sadun, Alfredo Arrigo / Carelli, Valerio

    Frontiers in neurology

    2014  Band 5, Seite(n) 141

    Abstract: Hereditary optic neuropathies are diseases affecting the optic nerve. The most common are mitochondrial hereditary optic neuropathies, i.e., the maternally inherited Leber's hereditary optic neuropathy (LHON) and dominant optic atrophy (DOA). They both ... ...

    Abstract Hereditary optic neuropathies are diseases affecting the optic nerve. The most common are mitochondrial hereditary optic neuropathies, i.e., the maternally inherited Leber's hereditary optic neuropathy (LHON) and dominant optic atrophy (DOA). They both share a mitochondrial pathogenesis that leads to the selective loss of retinal ganglion cells and axons, in particular of the papillo-macular bundle. Typically, LHON is characterized by an acute/subacute loss of central vision associated with impairment of color vision and swelling of retinal nerve fibers followed by optic atrophy. DOA, instead, is characterized by a childhood-onset and slowly progressive loss of central vision, worsening over the years, leading to optic atrophy. The diagnostic workup includes neuro-ophthalmologic evaluation and genetic testing of the three most common mitochondrial DNA mutations affecting complex I (11778/ND4, 3460/ND1, and 14484/ND6) for LHON and sequencing of the nuclear gene OPA1 for DOA. Therapeutic strategies are still limited including agents that bypass the complex I defect and exert an antioxidant effect (idebenone). Further strategies are aimed at stimulating compensatory mitochondrial biogenesis. Gene therapy is also a promising avenue that still needs to be validated.
    Sprache Englisch
    Erscheinungsdatum 2014-07-31
    Erscheinungsland Switzerland
    Dokumenttyp Journal Article ; Review
    ZDB-ID 2564214-5
    ISSN 1664-2295
    ISSN 1664-2295
    DOI 10.3389/fneur.2014.00141
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  4. Artikel ; Online: Visual evoked potentials findings in non-affected subjects from a large Brazilian pedigree of 11778 Leber's hereditary optic neuropathy.

    Sacai, Paula Yuri / Salomão, Solange Rios / Carelli, Valerio / Pereira, Josenilson Martins / Belfort, Rubens / Sadun, Alfredo Arrigo / Berezovsky, Adriana

    Documenta ophthalmologica. Advances in ophthalmology

    2010  Band 121, Heft 2, Seite(n) 147–154

    Abstract: To investigate pattern-reversal visual evoked potentials (PRVEP) in asymptomatic maternally and non-maternally related members from a large Brazilian 11778/ND4 LHON pedigree. Transient PRVEP for check sizes 15' and 60' were recorded from asymptomatic ... ...

    Abstract To investigate pattern-reversal visual evoked potentials (PRVEP) in asymptomatic maternally and non-maternally related members from a large Brazilian 11778/ND4 LHON pedigree. Transient PRVEP for check sizes 15' and 60' were recorded from asymptomatic mutation carriers and non-mutant descendants of affected/non-affected males, all with best-corrected visual acuity of 20/20. A control group of spouses (off-pedigree) was also included. Parameters of N75, P100 and N135 latencies (ms) and N75-P100 peak-to-peak amplitude (μV) as well as temporal dispersion (latency of N135-latency of N75) were determined. Longitudinal testing was obtained in a subseries of carriers in three annual consecutive visits. We tested 48 asymptomatic mutation carriers, 19 descendants of affected males, 9 descendants of non-affected males and 27 off-pedigrees, all of the latter being non-mutant. All non-mutant male descendants did not differ from off-pedigree controls. Statistically prolonged P100 latencies were found in mutation carriers (P = 0.0143) when compared with off-pedigrees for check sizes 15', as well as significantly larger temporal dispersions for both check size 15' (P = 0.0012) and check size 60' (P = 0.0271). Serial testing in 15 mutation carriers disclosed prolonged P100 latencies and larger temporal dispersion that did not change over time. Subclinical PRVEP abnormalities were detected in this large group of asymptomatic carriers of the 11778/ND4 LHON mutation from the same family, confirming and extending previous psychophysical and structural findings of a selective involvement of the parvocellular pathway. PRVEP is a useful test to characterize and monitor visual dysfunction in this devastating disease.
    Mesh-Begriff(e) Adolescent ; Adult ; Aged ; Brazil ; DNA, Mitochondrial/genetics ; Evoked Potentials, Visual/physiology ; Female ; Genetic Predisposition to Disease ; Humans ; Male ; Middle Aged ; Mitochondrial Diseases/genetics ; Mitochondrial Diseases/physiopathology ; Mutation/genetics ; NADH Dehydrogenase/genetics ; Optic Atrophy, Hereditary, Leber/genetics ; Optic Atrophy, Hereditary, Leber/physiopathology ; Optic Nerve/physiopathology ; Pedigree ; Retinal Ganglion Cells/physiology ; Visual Acuity/physiology ; Young Adult
    Chemische Substanzen DNA, Mitochondrial ; NADH dehydrogenase subunit 4 ; NADH Dehydrogenase (EC 1.6.99.3)
    Sprache Englisch
    Erscheinungsdatum 2010-07-31
    Erscheinungsland Netherlands
    Dokumenttyp Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 212594-8
    ISSN 1573-2622 ; 0012-4486
    ISSN (online) 1573-2622
    ISSN 0012-4486
    DOI 10.1007/s10633-010-9241-2
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  5. Artikel ; Online: Idebenone treatment in Leber's hereditary optic neuropathy.

    Carelli, Valerio / La Morgia, Chiara / Valentino, Maria Lucia / Rizzo, Giovanni / Carbonelli, Michele / De Negri, Anna Maria / Sadun, Federico / Carta, Arturo / Guerriero, Silvana / Simonelli, Francesca / Sadun, Alfredo Arrigo / Aggarwal, Divya / Liguori, Rocco / Avoni, Patrizia / Baruzzi, Agostino / Zeviani, Massimo / Montagna, Pasquale / Barboni, Piero

    Brain : a journal of neurology

    2011  Band 134, Heft Pt 9, Seite(n) e188

    Mesh-Begriff(e) Antioxidants/therapeutic use ; Female ; Humans ; Male ; Optic Atrophy, Hereditary, Leber/drug therapy ; Placebos ; Ubiquinone/analogs & derivatives ; Ubiquinone/therapeutic use
    Chemische Substanzen Antioxidants ; Placebos ; Ubiquinone (1339-63-5) ; idebenone (HB6PN45W4J)
    Sprache Englisch
    Erscheinungsdatum 2011-09
    Erscheinungsland England
    Dokumenttyp Comment ; Letter ; Research Support, Non-U.S. Gov't
    ZDB-ID 80072-7
    ISSN 1460-2156 ; 0006-8950
    ISSN (online) 1460-2156
    ISSN 0006-8950
    DOI 10.1093/brain/awr180
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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