Author Affiliations: Casey Eye Institute, Department of Ophthalmology, Oregon Health & Science University, Portland.
A 20-month-old boy was referred for examination following a diagnosis of neonatal adrenoleukodystrophy (NALD). He initially presented with delayed developmental milestones, hypotonia, and macrocephaly with a large anterior fontanelle. Pregnancy was uncomplicated; there was no related family history. Laboratory studies showed elevated very long-chain fatty acid and phytanic acid levels, and cultured skin fibroblast complementation analysis confirmed the diagnosis of NALD.
Electroretinograms (ERGs) were recorded under propofol sedation as described previously and according to International Society for Clinical Electrophysiology of Vision standards.1 Spectral-domain ocular coherence tomographic (SD-OCT) images were obtained with the Bioptigen Envisu R2200-HR OCT.
Robert J. Courtney, Mark E. Pennesi. Interval Spectral-Domain Optical Coherence Tomography and Electrophysiology Findings in Neonatal Adrenoleukodystrophy. JAMA Ophthalmol. 2013;131(6):807–810. doi:10.1001/jamaophthalmol.2013.2089