0
We're unable to sign you in at this time. Please try again in a few minutes.
Retry
We were able to sign you in, but your subscription(s) could not be found. Please try again in a few minutes.
Retry
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 ......
Research Letter |

Novel Compound Heterozygous Mutations Resulting in Cone Dystrophy With Supernormal Rod Response

Tamara Lee Lenis, MD, MS1; Elona Dhrami-Gavazi, MD2; Winston Lee, MA2,3; Sri Krishna Mukkamala, MD2,4; Mirela Raluca Tabacaru, MD2; Lawrence Yannuzzi, MD4; Peter Gouras, MD2; Stephen H. Tsang, MD, PhD2,3
[+] Author Affiliations
1Cleveland Clinic Lerner College of Medicine, Case Western Reserve University, Cleveland, Ohio
2Department of Ophthalmology, Columbia University, New York, New York
3Department of Pathology and Cell Biology, Columbia University, New York, New York
4Vitreous Retina Macula Consultants of New York, New York
JAMA Ophthalmol. 2013;131(11):1482-1485. doi:10.1001/jamaophthalmol.2013.4681.
Text Size: A A A
Published online

Extract

Cone dystrophy with supernormal rod response (CDSRR) (RCD3B, OMIM #610356) was first described in 2 siblings by Gouras et al1 in 1983. In subsequent reports, it has been characterized as a rare autosomal recessive retinal disorder associated with a delayed and markedly decreased cone and rod response that exhibits an exaggerated, or superthreshold, rod electroretinogram (ERG) in response to higher stimulus levels.2 Reports of CDSRR commonly describe an early onset of dyschromatopsia, photophobia, and central scotoma with poor best-corrected visual acuity.3 Associated signs and symptoms include nyctalopia, nystagmus, and macular retinal pigment epithelium changes.3,4

Figures in this Article

Sign in

Create a free personal account to sign up for alerts, share articles, and more.

Purchase Options

• Buy this article
• Subscribe to the journal

First Page Preview

View Large
First page PDF preview

Figures

Place holder to copy figure label and caption
Figure 1.
Color Photographs, Fundus Autofluorescence Images, and Optical Coherence Tomographic Images

Color photographs of the right (A) and left (B) eyes demonstrate bilateral macular atrophy (dotted inset) with pale optic nerves with peripapillary atrophy (white arrowheads) and diffuse retinal pigment epithelial changes. There was also a significant amount of asteroid hyalosis (black arrowhead) in the right eye (A). These magnified images of the macula highlight the graduated atrophy corresponding to the bright deposits around the fovea in both eyes (A and B) exhibiting a hyperreflective crystalline appearance. Fundus autofluorescence images of the right (C) and left (D) eyes demonstrate hypoautofluorescent areas suggestive of central atrophy with a surrounding ring of hyperautofluorescence corresponding to lipofuscin accumulation in the retinal pigment epithelium likely secondary to incomplete degradation of photoreceptor outer segments. These autofluorescence findings correlate with retinal optical coherence tomographic imaging of the right (E) and left (F) eyes showing diffuse outer retinal atrophy bilaterally.

Graphic Jump Location
Place holder to copy figure label and caption
Figure 2.
International Society for Clinical Electrophysiology of Vision–Standardized Full-Field Electroretinograms

The mean and typical traces in the right (A) and left (B) eyes of the patient are shown, and electroretinograms from an age-matched control subject with results within 2 SDs of the normal mean values representative of normal traces in this age group are shown for comparison (C). In the patient, photopic cone and 30-Hz Flicker responses were reduced and significantly delayed, the scotopic rod-specific response was delayed and reduced, and the maximal response was notably higher and more prolonged compared with the normative control.

Graphic Jump Location

Tables

References

Correspondence

CME
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.
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.
Submit a Comment

Multimedia

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

Sign in

Create a free personal account to sign up for alerts, share articles, and more.

Purchase Options

• Buy this article
• Subscribe to the journal

Related Content

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

Articles Related By Topic
Related Collections
PubMed Articles
Jobs
brightcove.createExperiences();