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 |

CRB1-Related Maculopathy With Cystoid Macular Edema

Yulia Wolfson, MD1; Carolyn D. Applegate, MGC2; Rupert W. Strauss, MD1,3; Ian C. Han, MD1; Hendrik P. Scholl, MD1
[+] Author Affiliations
1Department of Ophthalmology, Johns Hopkins University, Baltimore, Maryland
2Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland
3Department of Ophthalmology, Medical University Graz, Graz, Austria
JAMA Ophthalmol. 2015;133(11):1357-1360. doi:10.1001/jamaophthalmol.2015.2814.
Text Size: A A A
Published online


This case series describes twin sisters with cystoid macular edema related to a CRB1 mutation.

Two identical twin sisters in their teens presented to the Inherited Retinal Degenerations Clinic at the Wilmer Eye Institute for evaluation of cystoid macular edema (CME), which had been treated intermittently with topical carbonic anhydrase inhibitors. Both girls were myopic from early childhood but denied any visual complaints such as night blindness or visual field constriction, and their family history was negative for retinal diseases or consanguinity.

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
Figure 1.
Retinal Imaging and Visual Neurophysiology Testing

A, Color fundus photographs exhibit pigmentary macular abnormalities and edema. B, Fundus autofluorescence imaging demonstrates a perifoveal ring of relatively increased autofluorescence and a central petaloid pattern. C, Full-field electroretinography reveals moderately reduced cone responses with normal implicit times.

Graphic Jump Location
Place holder to copy figure label and caption
Figure 2.
Longitudinal Changes on Spectral-Domain Optical Coherence Tomography in the Left Eye of Twin 2

Initial B-scan with best-corrected visual acuity of 20/50 (A) and last available B-scan 28 months later with best-corrected visual acuity of 20/40 (B), showing decreases in central subfield thickness (from 336 to 225 µm) and macular volume (from 7.85 to 6.93 mm3). Analogous findings were observed in both eyes of both twins during the same period. The green horizontal arrow on the infrared image (left image of each panel) indicates the location of the horizontal cross-sectional B-scan (right image of each panel). The red lines on the B-scan provide inner and outer segmentation boundaries of the retina and correspond to the internal limiting membrane (upper line) and Bruch membrane (lower line).

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.

1 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