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Interval Spectral-Domain Optical Coherence Tomography and Electrophysiology Findings in Neonatal Adrenoleukodystrophy

Robert J. Courtney, MD; Mark E. Pennesi, MD, PhD
JAMA Ophthalmol. 2013;131(6):807-810. doi:10.1001/jamaophthalmol.2013.2089.
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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.

Correspondence: Dr Pennesi, Casey Eye Institute, Department of Ophthalmology, Oregon Health & Science University, 3375 Terwilliger Blvd, Room 5243, Portland, OR 97239 (pennesim@ohsu.edu).

Published Online: April 18, 2013. doi:10.1001/jamaophthalmol.2013.2089

Conflict of Interest Disclosures: None reported.

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Figure 1. Fundus photographs and spectral-domain optical coherence tomographic images. Fundus photograph montages of the right (A) and left (B) eyes demonstrate the chorioretinal atrophy and leopard-spot pigmentary change characteristic of neonatal adrenoleukodystrophy. Green lines indicate the area where the spectral-domain optical coherence tomographic (SD-OCT) scans were taken. An SD-OCT image of the right eye exhibits hyperreflective opacities in the vitreous (arrow) and severe outer retinal atrophy (C), and an SD-OCT image of the left eye demonstrates similar findings and highlights the thickened nerve fiber layer (brackets) (D). In the right (E) and left (F) eyes, SD-OCT images from outside the vascular arcades demonstrate subretinal hyperreflective nodules (arrowheads) that correspond with the pigmented leopard spots. An SD-OCT image from a healthy individual of similar age is shown for comparison (G).

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Figure 2. Electroretinograms. A, Full-field electroretinograms with single-flash scotopic, single-flash photopic, and 30-Hz flicker responses from a 1-year-old healthy patient are compared with those of our patient at 1 and 2 years. Note the severely decreased amplitude in all responses. B, Responses from A on a large scale reveal that recordable signals are present and bright-flash scotopic responses reveal a decreased b- to a-wave ratio, suggesting synaptic dysfunction between photoreceptors and bipolar cells. cd indicates candelas.

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