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Optical coherence tomography in x-linked adrenoleukodystrophy.

Jannelle J Aquino1, Elias S Sotirchos, Shiv Saidha

  • 1Department of Neurology, Johns Hopkins University, Baltimore, Maryland, USA.

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Retinal thinning is not an early sign of X-linked adrenoleukodystrophy (ALD). Optical coherence tomography (OCT) did not detect structural retinal changes in presymptomatic boys with ALD, suggesting OCT is not a reliable biomarker for early disease detection.

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Area of Science:

  • Neuroscience
  • Ophthalmology
  • Metabolic Disorders

Background:

  • X-linked adrenoleukodystrophy (ALD) is a genetic metabolic disorder caused by ABCD1 gene mutations, leading to very long-chain fatty acid accumulation.
  • While retinal nerve fiber layer thinning is seen in symptomatic ALD, its presence in presymptomatic stages is unknown.
  • Optical coherence tomography (OCT) is a high-resolution imaging technique used in ophthalmology and neurology to assess axonal and neuronal injury.

Purpose of the Study:

  • To investigate whether structural retinal abnormalities, detectable by OCT, are present in presymptomatic boys with X-linked adrenoleukodystrophy.
  • To explore the potential of OCT as an early diagnostic tool for ALD.

Main Methods:

  • Retinal imaging was performed using OCT on 14 boys with presymptomatic ALD.
  • 14 age-matched healthy boys served as controls for comparison.

Main Results:

  • No significant differences in retinal thickness were observed between the presymptomatic ALD group and the healthy control group.
  • OCT measures did not reveal structural retinal abnormalities in individuals with presymptomatic ALD.

Conclusions:

  • Structural retinal changes are not detectable by OCT in the presymptomatic stage of X-linked adrenoleukodystrophy.
  • Further research is needed to evaluate OCT's utility in monitoring disease progression in symptomatic ALD patients.