1. Optical Coherence Tomography in X-linked Adrenoleukodystrophy

    Optical Coherence Tomography in X-linked Adrenoleukodystrophy

    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 ...

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