We're unable to sign you in at this time. Please try again in a few minutes.
We were able to sign you in, but your subscription(s) could not be found. Please try again in a few minutes.
There may be a problem with your account. Please contact the AMA Service Center to resolve this issue.
Contact the AMA Service Center:
Telephone: 1 (800) 262-2350 or 1 (312) 670-7827  *   Email: subscriptions@jamanetwork.com
Error Message ......
Letters |

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.
Text Size: A A A
Published online


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.

Figures in this Article


Sign in

Purchase Options

• Buy this article
• Subscribe to the journal
• Rent this article ?

First Page Preview

View Large
First page PDF preview


Place holder to copy figure label and caption
Graphic Jump Location

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).

Place holder to copy figure label and caption
Graphic Jump Location

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.




Also Meets CME requirements for:
Browse CME for all U.S. States
Accreditation Information
The American Medical Association is accredited by the Accreditation Council for Continuing Medical Education to provide continuing medical education for physicians. The AMA designates this journal-based CME activity for a maximum of 1 AMA PRA Category 1 CreditTM per course. Physicians should claim only the credit commensurate with the extent of their participation in the activity. Physicians who complete the CME course and score at least 80% correct on the quiz are eligible for AMA PRA Category 1 CreditTM.
Note: You must get at least of the answers correct to pass this quiz.
Please click the checkbox indicating that you have read the full article in order to submit your answers.
Your answers have been saved for later.
You have not filled in all the answers to complete this quiz
The following questions were not answered:
Sorry, you have unsuccessfully completed this CME quiz with a score of
The following questions were not answered correctly:
Commitment to Change (optional):
Indicate what change(s) you will implement in your practice, if any, based on this CME course.
Your quiz results:
The filled radio buttons indicate your responses. The preferred responses are highlighted
For CME Course: A Proposed Model for Initial Assessment and Management of Acute Heart Failure Syndromes
Indicate what changes(s) you will implement in your practice, if any, based on this CME course.


Some tools below are only available to our subscribers or users with an online account.

0 Citations

Sign in

Purchase Options

• Buy this article
• Subscribe to the journal
• Rent this article ?

Related Content

Customize your page view by dragging & repositioning the boxes below.

Related Multimedia