Retinal nerve fibre layer thickness in ARSACS: myelination or hypertrophy?

García‐Martín, Elena; Júlvez, Luis Pablo; Gazulla, José; Polo, Vicente; Ferreras, Antonio; Larrosa, José M.

doi:10.1136/bjophthalmol-2012-302309

Cited by 24 publications

(20 citation statements)

References 5 publications

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“…However these fundoscopic appearances have been inconsistently observed in non-Québecois cases (Takiyama, 2006, Gücüyener et al, 2001, Mrissa et al, 2000, Grieco et al, 2004, Garcia-Martin et al, 2013, Vermeer et al, 2008. OCT scans in ARSACS have confirmed abnormal thickening of the RNFL (Garcia-Martin et al, 2013, Vingolo et al, 2011, Pablo et al, 2011, Desserre et al, 2011, Stevens et al, 2013, Nethisinghe et al, 2011, Gazulla et al, 2012 although one series reported a single case with peripapillary RNFL thicknesses of 86 and 111m which were within the range for unaffected controls (Yu-Wai-Man et al, 2014). Furthermore, in a previous study we reported that two unaffected individuals in a single family who were heterozygous for two different SACS mutations showed partial peripapillary RNFL thickening with a mean of thickness of 115.5m (Nethisinghe et al, 2011).…”

Section: Abbreviationsmentioning

confidence: 99%

Optical coherence tomography in autosomal recessive spastic ataxia of Charlevoix-Saguenay

Parkinson

Bartmann

Clayton

et al. 2018

Brain

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Autosomal recessive spastic ataxia of Charlevoix-Saguenay is a rare neurodegenerative disorder caused by mutations in the SACS gene. Thickened retinal nerve fibres visible on fundoscopy have previously been described in these patients; however, thickening of the retinal nerve fibre layer as demonstrated by optical coherence tomography appears to be a more sensitive and specific feature. To test this observation, we assessed 292 individuals (191 patients with ataxia and 101 control subjects) by peripapillary time-domain optical coherence tomography. The patients included 146 with a genetic diagnosis of ataxia (17 autosomal spastic ataxia of Charlevoix-Saguenay, 59 Friedreich's ataxia, 53 spinocerebellar ataxias, 17 other genetically confirmed ataxias) and 45 with cerebellar ataxia of unknown cause. The controls included 13 asymptomatic heterozygotes for SACS mutations and 88 unaffected controls. The cases with autosomal recessive spastic ataxia of Charlevoix-Saguenay included 11 previously unpublished SACS mutations, of which seven were nonsense and four missense mutations. Most patients were visually asymptomatic and had no previous history of ophthalmic complaints and normal or near normal visual test results. None had visual symptoms directly attributable to the retinal changes. Twelve of the 17 cases (70.6%) had thickened retinal nerve fibres visible on fundoscopy. All patients with autosomal recessive spastic ataxia of Charlevoix-Saguenay had thickening of the peripapillary retinal nerve fibre layer on optical coherence tomography, whereas all the remaining cases and controls except one showed normal or reduced average peripapillary retinal nerve fibre layer thickness on optical coherence tomography. We propose a cut-off value of 119 µm in average peripapillary retinal nerve fibre layer thickness, which provides a sensitivity of 100% and specificity of 99.4% amongst patients affected with ataxia. This is the largest cohort of patients with this condition to undergo systematic evaluation by optical coherence tomography. This is a useful tool in identifying cases of autosomal recessive spastic ataxia of Charlevoix-Saguenay from other causes of ataxia. Visualization of thickened retinal fibres by direct fundoscopy is less sensitive. We therefore advocate the use of this technique in the assessment of possible cases of this condition.

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Section: Abbreviationsmentioning

confidence: 99%

Optical coherence tomography in autosomal recessive spastic ataxia of Charlevoix-Saguenay

Parkinson

Bartmann

Clayton

et al. 2018

Brain

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“… 2 A recent case report has even further argued that retinal ‘hypermyelination’ in ARSACS is a pathologically misleading term that should be abandoned in favour of retinal nerve fibre layer (RNFL) hypertrophy. 3 …”

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confidence: 99%

Abnormal retinal thickening is a common feature among patients with ARSACS-related phenotypes: Table 1

et al. 2014

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“…The specificity of the peripapillary RNFL thickening is 100%, but sensitivity is lower with some patients, particularly those of Japanese origin, being reported not to exhibit such peripapillary RNFL thickening, either by fundus or by OCT examination ( 4 , 5 ). OCT examination has also recently revealed an absence of the physiological foveal depression ( 7 , 11 – 13 ). However, despite these structural abnormalities, visual dysfunction in ARSACS (using standard tests of visual acuity, visual field, and color vision) has not been previously reported.…”

Section: Commentmentioning

confidence: 99%

“…The first report of ARSACS described “striking and markedly increased visibility of the retinal nerve fibers, mainly in the papillomacular bundle area” ( 2 ). The exact nature of the peripapillary RNFL thickening has been debated, but OCT findings suggest hypertrophy of the RNFL rather than myelination of RNFL ( 11 , 12 ). The specificity of the peripapillary RNFL thickening is 100%, but sensitivity is lower with some patients, particularly those of Japanese origin, being reported not to exhibit such peripapillary RNFL thickening, either by fundus or by OCT examination ( 4 , 5 ).…”

Section: Commentmentioning

confidence: 99%

Inner Retinal Dysfunction in the Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

2017

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The autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is associated with structural retinal abnormalities either directly visible on funduscopy or revealed by optical coherence tomography (OCT). Most patients with ARSACS have a whitish peripapillary appearance corresponding to a thickening of the peripapillary retinal nerve fiber layer. OCT has also shown an absence of the physiological foveal depression. Abnormal electroretinography (ERG) has previously been reported in only two cases, without further details. This report describes a patient with ARSACS in whom careful full-field ERG revealed dysfunction of the retinal On− bipolar cells with sparing of photoreceptor function. This is the first report of inner retinal dysfunction in ARSACS.

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Retinal nerve fibre layer thickness in ARSACS: myelination or hypertrophy?

Cited by 24 publications

References 5 publications

Optical coherence tomography in autosomal recessive spastic ataxia of Charlevoix-Saguenay

Optical coherence tomography in autosomal recessive spastic ataxia of Charlevoix-Saguenay

Abnormal retinal thickening is a common feature among patients with ARSACS-related phenotypes: Table 1

Inner Retinal Dysfunction in the Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

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