title: Optical coherence tomography in x-linked adrenoleukodystrophy.
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.
authors.affiliation: Department of Neurology, Johns Hopkins University, Baltimore, Maryland, USA.
authors.forename: Jannelle J
authors.initials: JJ
authors.lastname: Aquino
authors.forename: Elias S
authors.initials: ES
authors.lastname: Sotirchos
authors.forename: Shiv
authors.initials: S
authors.lastname: Saidha
authors.forename: Gerald V
authors.initials: GV
authors.lastname: Raymond
authors.forename: Peter A
authors.initials: PA
authors.lastname: Calabresi
mesh_terms: D000293:Adolescent; D000326:Adrenoleukodystrophy / Q000473:pathology*; D016022:Case-Control Studies; D002648:Child; D006801:Humans; D008297:Male; D011859:Radiography; D012160:Retina / Q000002:abnormalities* / Q000000981:diagnostic imaging*; D041623:Tomography, Optical Coherence