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Title: Association of Optic Disc Size with Development and Prognosis of Leber's Hereditary Optic Neuropathy
Authors: Ramos, Carolina do V. F. [UNIFESP]
Bellusci, Costantino
Savini, Giacomo
Carbonelli, Michele
Berezovsky, Adriana [UNIFESP]
Tamaki, Celina [UNIFESP]
Cinoto, Rafael [UNIFESP]
Sacai, Paula Yuri [UNIFESP]
Moraes-Filho, Milton Nunes de [UNIFESP]
Miura, Hevillin M. P. P. [UNIFESP]
Valentino, Maria Lucia
Iommarini, Luisa
De Negri, Anna Maria
Sadun, Federico
Cortelli, Pietro
Montagna, Pasquale
Salomão, Solange Rios [UNIFESP]
Sadun, Alfredo A.
Carelli, Valerio
Barboni, Piero
Univ Bologna
Universidade Federal de São Paulo (UNIFESP)
Fdn GB Bietti
Studio Oculist Azeglio
Azienda San Camillo Forlanini
Osped San Giovanni Bellinzona
Univ So Calif
Issue Date: 1-Apr-2009
Publisher: Assoc Research Vision Ophthalmology Inc
Citation: Investigative Ophthalmology & Visual Science. Rockville: Assoc Research Vision Ophthalmology Inc, v. 50, n. 4, p. 1666-1674, 2009.
Abstract: PURPOSE. To study the optic nerve head (ONH) morphology of patients with Leber's hereditary optic neuropathy (LHON) in a large family from Brazil carrying the 11778/ND4 mutation and in a case series of unrelated Italian families bearing different mitochondrial DNA (mtDNA) pathogenic mutations.METHODS. Enrolled in the study were 15 LHON-affected patients (LHON-affected) and 45 LHON unaffected mutation carriers (LHON carriers) belonging to the previously reported Brazilian SOA-BR LHON pedigree and 56 LHON-affected and 101 LHON carriers from 45 unrelated LHON Italian pedigrees molecularly defined. the LHON-affected were subgrouped according to the extent of visual recovery. All individuals underwent optic nerve head (ONH) analysis by optical coherence tomography.RESULTS. in the Brazilian sample, the mean optic disc area was significantly larger in LHON carriers than in the control group (P = 0.002). in the Italian sample, the mean optic disc area and vertical disc diameter were significantly higher in LHON carriers than in both LHON-affected (respectively, P = 0.008 and P < 0.001) and control subjects (P < 0.001 in both cases). the LHON-affected with visual recovery had a significantly larger vertical disc diameter when compared with those without visual recovery (P = 0.03).CONCLUSIONS. the results, revealing that the ONH size is larger in LHON carriers than in LHON-affected, suggest a protective role for this anatomic trait. Such a hypothesis is reinforced by the observation that, among the LHON-affected, larger discs correlated with visual recovery and better visual outcome. the findings may be relevant for prognosis and provide a mechanism for identifying nuclear-modifying genes implicated in the variability of penetrance in LHON. (Invest Ophthalmol Vis Sci. 2009; 50: 1666-1674) DOI:10.1167/iovs.08-2695
ISSN: 0146-0404
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