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 ......
Observation |

Apparent Usher Syndrome Caused by the Combination of BBS1-Associated Retinitis Pigmentosa and SLC26A4-Associated Deafness

Adam P. DeLuca, PhD1; Matthew C. Weed, MD1; Christine M. Haas1; Jennifer A. Halder1; Edwin M. Stone, MD, PhD1,2
[+] Author Affiliations
1Department of Ophthalmology and Visual Sciences, University of Iowa Carver College of Medicine, Iowa City
2Howard Hughes Medical Institute, Iowa City, Iowa
JAMA Ophthalmol. 2015;133(8):967-968. doi:10.1001/jamaophthalmol.2015.1463.
Text Size: A A A
Published online


The clinical features of a known mendelian disease can occasionally be mimicked by the random co-occurrence of 2 different conditions in the same individual. We report a case in which whole-exome sequencing in a patient previously suspected to have Usher syndrome revealed disease-causing mutations in BBS1 and SLC26A4. This case illustrates how detailed and accurate clinical data are needed to interpret exome-scale genetic testing results.

Article InformationCorresponding Author: Edwin M. Stone, MD, PhD, Department of Ophthalmology and Visual Sciences, University of Iowa Carver College of Medicine, 200 Hawkins Dr, Iowa City, IA 52242 (edwin-stone@uiowa.edu).

Published Online: May 28, 2015. doi:10.1001/jamaophthalmol.2015.1463.

Conflict of Interest Disclosures: All authors have completed and submitted the ICMJE Form for Disclosure of Potential Conflicts of Interest and none were reported.

Funding/Support: This work was supported by the Stephen A. Wynn Foundation, the Foundation Fighting Blindness, and the Howard Hughes Medical Institute.

Role of the Funder/Sponsor: The funders had no role in the design and conduct of the study; collection, management, analysis, and interpretation of the data; preparation, review, or approval of the manuscript; and decision to submit the manuscript for publication.

Figures in this Article

First Page Preview

View Large
First page PDF preview


Place holder to copy figure label and caption
Figure 1.
Audiograms at Ages 2 and 34 Years Showing Early, Profound Hearing Loss
Graphic Jump Location
Place holder to copy figure label and caption
Figure 2.
Color Fundus Photographs

Montage color fundus photographs of the right (A) and left (B) eyes demonstrating optic disc pallor, retinal vascular attenuation, and diffuse peripheral bone spicule–like pigmentation.

Graphic Jump Location




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.

Articles Related By Topic
Related Collections
PubMed Articles