Optical coherence tomography in X-linked adrenoleukodystrophy

Jannelle J. Aquino, Elias S. Sotirchos, Shiv Saidha, Gerald V. Raymond, Peter A. Calabresi

Research output: Contribution to journalArticle

5 Citations (Scopus)

Abstract

Background X-linked adrenoleukodystrophy is a metabolic disease caused by mutations in the ABCD1 gene, which codes for a peroxisomal membrane protein, leading to the accumulation of very long-chain fatty acids. Thinning of the retinal nerve fiber layer and macula has been described in adult-onset adrenomyeloneuropathy; however, assessment of these structures in the presymptomatic stage remains largely unexplored. Optical coherence tomography is a high-resolution medical imaging technology that has been widely used to assess ophthalmological diseases and more recently in neurological disease states to quantify the axonal and neuronal injury in the retina that results from demyelination of the optic nerve. Methods Fourteen boys with presymptomatic X-linked adrenoleukodystrophy and 14 age-matched healthy controls underwent retinal imaging with optical coherence tomography. Results Optical coherence tomography-derived retinal thickness measures did not differ between adrenoleukodystrophy subjects and healthy controls. Conclusions Our results suggest that structural retinal abnormalities are not detectable before the development of neurological manifestations in adrenoleukodystrophy. Further investigation of the utility of optical coherence tomography scanning in individuals with symptomatic disease should be considered to determine if its measures could be used as a biomarker of disease progression.

Original languageEnglish (US)
Pages (from-to)182-184
Number of pages3
JournalPediatric Neurology
Volume49
Issue number3
DOIs
StatePublished - Sep 1 2013

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Adrenoleukodystrophy
Optical Coherence Tomography
Metabolic Diseases
Demyelinating Diseases
Diagnostic Imaging
Optic Nerve
Neurologic Manifestations
Nerve Fibers
Disease Progression
Retina
Healthy Volunteers
Membrane Proteins
Fatty Acids
Biomarkers
Technology
Mutation
Wounds and Injuries
Genes

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health
  • Neurology
  • Developmental Neuroscience
  • Clinical Neurology

Cite this

Aquino, J. J., Sotirchos, E. S., Saidha, S., Raymond, G. V., & Calabresi, P. A. (2013). Optical coherence tomography in X-linked adrenoleukodystrophy. Pediatric Neurology, 49(3), 182-184. https://doi.org/10.1016/j.pediatrneurol.2013.04.012
Aquino, Jannelle J. ; Sotirchos, Elias S. ; Saidha, Shiv ; Raymond, Gerald V. ; Calabresi, Peter A. / Optical coherence tomography in X-linked adrenoleukodystrophy. In: Pediatric Neurology. 2013 ; Vol. 49, No. 3. pp. 182-184.
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Aquino, JJ, Sotirchos, ES, Saidha, S, Raymond, GV & Calabresi, PA 2013, 'Optical coherence tomography in X-linked adrenoleukodystrophy', Pediatric Neurology, vol. 49, no. 3, pp. 182-184. https://doi.org/10.1016/j.pediatrneurol.2013.04.012

Optical coherence tomography in X-linked adrenoleukodystrophy. / Aquino, Jannelle J.; Sotirchos, Elias S.; Saidha, Shiv; Raymond, Gerald V.; Calabresi, Peter A.

In: Pediatric Neurology, Vol. 49, No. 3, 01.09.2013, p. 182-184.

Research output: Contribution to journalArticle

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Aquino JJ, Sotirchos ES, Saidha S, Raymond GV, Calabresi PA. Optical coherence tomography in X-linked adrenoleukodystrophy. Pediatric Neurology. 2013 Sep 1;49(3):182-184. https://doi.org/10.1016/j.pediatrneurol.2013.04.012