Retinal nerve fiber layer evaluation by optical coherence tomography in Leber's hereditary optic neuropathy

Barboni, Piero; Savini, Giacomo; Valentino, Maria Lucia; Montagna, Pasquale; Cortelli, Pietro; Negri, Anna Maria De; Sadun, Federico; Bianchi, Stefanía; Longanesi, L.; Zanini, Maurizio; Vivo, A De; Carelli, Valerio

doi:10.1016/j.ophtha.2004.06.034

Cited by 219 publications

(152 citation statements)

References 29 publications

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“…Such an asymmetric enlargement of the optic excavation despite the diffuse thinning of the RNFL may reflect the spatial characteristics, with which the temporal side of the optic disc is more prone to be excavated. Alternatively, as pointed out by Barboni et al, 26 the temporal RNFL was more severely damaged and lost than the nasal in eyes with LHON, but HRT could not accurately measure reduction of the RNFL thickness for yet undefined reasons.…”

Section: Hrt Parameters In Optic Neuropathiesmentioning

confidence: 99%

“…On the other hand, loss of retinal ganglion cells and RNFL has been demonstrated in LHON. [26][27][28][29][30] Barboni et al 26 showed severely decreased RNFL thickness in the temporal, superior, and inferior quadrants with a relative sparing in the nasal quadrant using OCT in the atrophic phase of LHON. According to their study, the reduction rate of RNFL thickness in the temporal quadrant was about 40%.…”

Section: Hrt Parameters In Optic Neuropathiesmentioning

confidence: 99%

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Evaluation of optic nerve head configuration in various types of optic neuropathy with Heidelberg Retina Tomograph

Nagai-Kusuhara

Nakamura

Kanamori

et al. 2007

Eye

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Purpose To test whether Heidelberg Retina Tomograph (HRT) is applicable to assess the optic nerve head (ONH) configuration of the atrophic phase of non-glaucomatous optic neuropathy when a default set of the reference plane is used. Methods Ten eyes with non-arteritic anterior ischaemic optic neuropathy (NAION), 17 eyes with Leber's hereditary optic neuropathy (LHON), 40 eyes with compressive optic neuropathy (CON) owing to chiasmal tumour, and 241 eyes of control individuals were examined with HRT using the default reference plane. The global values of HRT parameters were evaluated among the groups of patients and controls. The sectoral measurements of the eyes with LHON and CON were compared with controls. To eliminate the influence of disc size and age on HRT measurements, eyes with disc area-and age-matched normal controls were used for comparison with eyes with NAION and LHON. Results Cup parameters in eyes with NAION were similar to those in controls. The retinal nerve fibre layer (RNFL) thickness was significantly thinner in eyes with NAION than that of controls. The eyes with LHON had significantly larger cup parameters, smaller rim volume, and thinner mean RNFL thickness than controls. Eyes with CON had significantly larger rim area and smaller cup parameters but similar RNFL thickness compared with controls. Conclusions When the default reference plane is used, HRT can measure the ONH configuration in eyes with NAION and LHON as expected. However, caution must be made to interpret the parameters obtained from the eyes with CON.

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Section: Hrt Parameters In Optic Neuropathiesmentioning

confidence: 99%

Section: Hrt Parameters In Optic Neuropathiesmentioning

confidence: 99%

Evaluation of optic nerve head configuration in various types of optic neuropathy with Heidelberg Retina Tomograph

Nagai-Kusuhara

Nakamura

Kanamori

et al. 2007

Eye

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“…RNFL thickening is correlated with axonal edema and mitochondrial redistribution at dysfunctional ganglion cells, affecting the prelaminar unmyelinated portion of the optic nerve axons [7]. In the acute phase and in the first 6 months of onset, the RNFL analysis shows thickening in the upper and lower segments, compared to the control group [8,9]. At the atrophic stage, a RNFL thinning appears in all segments.…”

Section: Discussionmentioning

confidence: 98%

Leber’s hereditary optic neuropathy - Case report

Iorga

Mihailovici

Costin

2018

rjo

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Leber's hereditary optic neuropathy is the most common mitochondrial condition and is characterized by bilateral, painless, subacute visual loss that develops during young adult life. LHON is a rare condition and this lack of knowledge can make doctors suspect and treat for other causes of vision loss. Typically, a series of tests are performed to confirm LHON diagnosis or exclude any other conditions. We presented the case of two brothers, HB, of 40 years old and HF, of 38 years old, who presented with a decrease in visual acuity in both eyes. The patients had been diagnosed with optic atrophy of unknown cause a long time ago, but no further investigations were made. They were treated with corticosteroids, antioxidants and vasodilators, but with no significant benefit. A blood test of the mitochondrial DNA, a magnetic resonance imaging and an optic coherence tomography of the optic nerve and macula were part of the following assessment of our patients. The mitochondrial DNA analyses revealed the 3460 G>A mutation on the mtND1 gene in both patients. Based on the medical history, the fundus aspect, the optic coherence tomography and the paraclinical investigations of the diagnosis of Leber's hereditary optic neuropathy were established in both patients. We started the treatment with idebenone and we evaluated the patients after three months. Keywords: Leber's hereditary optic neuropathy, mitochondrial DNA test, optic coherence tomography, idebenone Abbreviations: LHON = Leber's hereditary optic neuropathy, mtDNA = mitochondrial DNA, VA = visual acuity, CF = count fingers, OCT = optical coherence tomography, RNFL = retinal nerve fiber layer, GCL = ganglion cells layer, MS = multiple sclerosis, MRI = magnetic resonance imaging, MTI = magnetization transfer imaging, MTR = magnetization transfer ratio

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“…Barboni describe 38 pacientes con neuropatía óptica de Leber y encuentra en el estudio mediante OCT un aumento del grosor de fibras nerviosas mayor en los sectores superior, inferior y nasal en las fases precoces y una disminución difusa en todos los cuadrantes en estadios de atrofia, si bien aquellos pacientes que recuperaban agudeza visual tras la fase aguda tenían un grosor de CFN mayor en los cuadrantes superior, inferior y nasal respecto de los que no recuperaban visión estas diferencias no se encontraron en el cuadrante temporal, con grosores muy inferiores en todos los pacientes (5).…”

Section: Fig 5: 2º Caso Campo Visual Octupus G1 Top Se Observa Deunclassified

“…El OCT va a ser útil en el diagnóstico de las neuropatías ópticas de causa nutricional, tóxica o hereditaria, donde de forma característica puede identificarse una disminución del haz de fibras maculopapilar (5 caso de las neuropatías ópticas con un suplemento vitamínico y el abandono del tabaco o el alcohol. La disminución del grosor de CFN en las neuropatías ópticas isquémicas o inflamatorias puede presentarse con varios patrones, bien difusa y afectar por igual todo el disco en las formas inflamatorias y en las formas isquémicas no arteríticas donde existe una perdida de campo altitudinal afectar de forma más acusada a las fibras nerviosas superiores.…”

Section: Fig 5: 2º Caso Campo Visual Octupus G1 Top Se Observa Deunclassified

Utilización de la tomografía óptica de coherencia en neuropatías ópticas hereditarias: Descripción de una familia

Sánchez-Tocino

De-Andrés-Santos

et al. 2008

Arch Soc Esp Oftalmol

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Retinal nerve fiber layer evaluation by optical coherence tomography in Leber's hereditary optic neuropathy

Cited by 219 publications

References 29 publications

Evaluation of optic nerve head configuration in various types of optic neuropathy with Heidelberg Retina Tomograph

Evaluation of optic nerve head configuration in various types of optic neuropathy with Heidelberg Retina Tomograph

Leber’s hereditary optic neuropathy - Case report

Utilización de la tomografía óptica de coherencia en neuropatías ópticas hereditarias: Descripción de una familia

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