title: Optic nerve atrophy in adrenoleukodystrophy detectable by optic coherence tomography.
abstract: The adrenoleukodystrophies (ALDs) are a group of metabolic disorders characterised by the accumulation of very long-chain fatty acids in all tissues. The two most frequent ALD phenotypes are adult-onset adrenomyeloneuropathy (AMN) and childhood cerebral ALD. Visual system involvement in the adult phenotype is well described as impairment of visual function and optic disc pallor on clinical examination accompanied by demyelination of the optic nerves seen on MRI. Thinning of the retinal nerve fiber layer and ganglion cell death has been described in a neonatal form of ALD. Our patient provides evidence, through ocular coherence tomography scanning of the retina, that such degenerative changes also underlie the visual dysfunction seen in the AMN phenotype.
authors.affiliation: Department of Ophthalmology, Faculty of Medical and Health Sciences, Private Bag 92019, University of Auckland, Auckland Mail Centre, Auckland 1142, New Zealand.
authors.forename: Brian T
authors.initials: BT
authors.lastname: Grainger
authors.forename: Taras L
authors.initials: TL
authors.lastname: Papchenko
authors.forename: Helen V
authors.initials: HV
authors.lastname: Danesh-Meyer
mesh_terms: D000326:Adrenoleukodystrophy / Q000150:complications*; D001284:Atrophy / Q000209:etiology / Q000473:pathology / Q000503:physiopathology; D001766:Blindness / Q000209:etiology / Q000473:pathology / Q000503:physiopathology; D003711:Demyelinating Diseases / Q000209:etiology / Q000473:pathology / Q000503:physiopathology; D018450:Disease Progression; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009413:Nerve Fibers, Myelinated / Q000473:pathology; D009900:Optic Nerve / Q000473:pathology* / Q000503:physiopathology; D009901:Optic Nerve Diseases / Q000209:etiology* / Q000473:pathology* / Q000503:physiopathology; D011237:Predictive Value of Tests; D012165:Retinal Ganglion Cells / Q000473:pathology; D041623:Tomography, Optical Coherence / Q000379:methods*; D014787:Vision Tests