Optic nerve atrophy in adrenoleukodystrophy detectable by optic coherence tomography

Grainger, Brian; Papchenko, Taras; Danesh‐Meyer, Helen V.

doi:10.1016/j.jocn.2009.08.019

Cited by 20 publications

(11 citation statements)

References 6 publications

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“…As axonal degeneration is the pathological hallmark of myelopathy in ALD, thinning of RNFL and the GCL could reflect spinal cord damage and, therefore, serve as a surrogate outcome measure for myelopathy in ALD. Indeed, thinning of the RNFL has been reported in an ALD patient with myelopathy [23], but has never been systematically studied in a larger group of ALD patients. Therefore, in this cross-sectional study, we investigated the association between retinal neurodegeneration, measured as RNFL and GCL thickness on OCT, and the severity of myelopathy in both men and women with ALD.…”

Section: Introductionmentioning

confidence: 99%

Optical coherence tomography shows neuroretinal thinning in myelopathy of adrenoleukodystrophy

et al. 2019

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Background Progressive myelopathy is the main cause of disability in adrenoleukodystrophy (ALD). Development of therapies is hampered by a lack of quantitative outcome measures. In this study, we investigated whether myelopathy in ALD is associated with retinal neurodegeneration on optical coherence tomography (OCT), which could serve as a surrogate outcome measure. Methods Sixty-two patients (29 men and 33 women) and 70 age-matched and sex-matched controls (33 men and 37 women) were included in this cross-sectional study. We compared retinal nerve fiber layer (RNFL), ganglion cell layer (GCL) and peripapillary retinal nerve fiber layer (pRNFL) thickness between ALD patients and controls. In addition, we correlated these OCT measurements with clinical parameters of severity of myelopathy. Results Patients had significantly thinner RNFL (male group, p < 0.05) and pRNFL superior and temporal quadrant [both male (p < 0.005) and female (p < 0.05) groups] compared to controls. Comparing three groups (symptomatic patients, asymptomatic patients and controls), there were significant differences in RNFL thickness (total grid and peripheral ring) in the male group (p ≤ 0.002) and in pRNFL thickness (superior and temporal quadrant) in both male (p ≤ 0.02) and the female (p ≤ 0.02) groups. Neuroretinal layer thickness correlated moderately with severity of myelopathy in men (correlation coefficients between 0.29-0.55, p < 0.02), but not in women. Conclusions These results suggest that neurodegeneration of the spinal cord in ALD is reflected in the retina of patients with ALD. Therefore, OCT could be valuable as an outcome measure for the myelopathy of ALD. Additional longitudinal studies are ongoing.

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Section: Introductionmentioning

confidence: 99%

Optical coherence tomography shows neuroretinal thinning in myelopathy of adrenoleukodystrophy

et al. 2019

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“…Trilammelar inclusions are also observed in Schwann cells. Optic nerve atrophy, manifested as impaired visual function, optic disk pallor and demyelination of the optic nerves, as seen by neuroimaging methods, may occur in AMN (51).…”

Section: Neuropathologymentioning

confidence: 99%

General Aspects and Neuropathology of X‐Linked Adrenoleukodystrophy

2010

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X-adrenoleukodystrophy (X-ALD) is a metabolic, peroxisomal disease affecting the nervous system, adrenal cortex and testis resulting from inactivating mutations in ABCD1 gene which encodes a peroxisomal membrane half-adenosine triphosphate (ATP)-binding cassette transporter, ABCD1 (or ALDP), whose defect is associated with impaired peroxisomal beta-oxidation and accumulation of saturated very long-chain fatty acids (VLCFA) in tissues and body fluids. Several phenotypes are recognized in male patients including cerebral ALD in childhood, adolescence or adulthood, adrenomyeloneuropathy (AMN), Addison's disease and, eventually, gonadal insufficiency. Female carriers might present with mild to severe myeloneuropathy that resembles AMN. There is a lack of phenotype-genotype correlations, as the same ABCD1 gene mutation may be associated with different phenotypes in the same family, suggesting that genetic, epigenetic, environmental and stochastic factors are probably contributory to the development and course of the disease. Degenerative changes, like those seen in pure AMN without cerebral demyelination, are characterized by loss of axons and secondary myelin in the long tracts of the spinal cord, possibly related to the impaired lipid metabolism of VLCFAs and the associated alterations (ie, oxidative damage). Similar lesions are encountered following inactivation of ABCD1 in mice (ABCD1(-)). A different and more aggressive phenotype is secondary to cerebral demyelination, very often accompanied by inflammatory changes in the white matter of the brain and associated with activation of T lymphocytes, CD1 presentation and increased levels of cytokines, gamma-interferon, interleukin (IL)-1alpha, IL-2 and IL-6, Granulocyte macrophage colony-stimulating factor (GM-CSF), tumor necrosis factor-alpha, chemokines and chemokine receptors.

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“…[7][8][9][10][11][12][13][14][15][16] While a majority of the research in these conditions has focused on measuring the peripapillary retinal nerve fiber layer (pRNFL), recent data suggest the ganglion cell layer-inner plexiform layer (GCL-IPL) Copyright 2014 The Association for Research in Vision and Ophthalmology, Inc. www.iovs.org j ISSN: 1552-5783 of the macula may be a more accurate and reliable biomarker of vision. 17,18 Accurate and reliable pRNFL measurements are known to be hampered by axonal swelling, axonal atrophy, blood vessel artifact within the pRNFL, and between-subject variation in the mapping of RNFL bundle to corresponding VF.…”

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confidence: 99%

Ganglion Cell Layer–Inner Plexiform Layer Thickness and Vision Loss in Young Children With Optic Pathway Gliomas

Glaug

Cnaan

et al. 2014

Invest. Ophthalmol. Vis. Sci.

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Optic nerve atrophy in adrenoleukodystrophy detectable by optic coherence tomography

Cited by 20 publications

References 6 publications

Optical coherence tomography shows neuroretinal thinning in myelopathy of adrenoleukodystrophy

Optical coherence tomography shows neuroretinal thinning in myelopathy of adrenoleukodystrophy

General Aspects and Neuropathology of X‐Linked Adrenoleukodystrophy

Ganglion Cell Layer–Inner Plexiform Layer Thickness and Vision Loss in Young Children With Optic Pathway Gliomas

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