0
Research Letters |

Morphogenetic Model for Radial Streaking in the Fundus of the Carrier State of X-Linked Albinism

Ala Moshiri, MD, PhD; Hendrik P. N. Scholl, MD; Maria Valeria Canto-Soler, PhD; Morton F. Goldberg, MD
JAMA Ophthalmol. 2013;131(5):691-693. doi:10.1001/jamaophthalmol.2013.39.
Text Size: A A A
Published online

Extract

Ocular albinism is an X-linked disease characterized in affected males by poor vision, nystagmus, iris transillumination, hypopigmented fundus, foveal hypoplasia, and a decreased proportion of ipsilateral ganglion cell fibers at the optic chiasm. Mutation of the OA1/GPR143 gene on the X chromosome is responsible for this condition. The skin and hair pigmentation appears clinically normal, but skin histologic analysis reveals macromelanosomes in melanocytes.1 Carriers of the condition are rarely symptomatic but often have signs of their carrier status. Female carriers have macromelanosomes in the skin, although they are fewer in number than in affected males. The eyes of carriers often show iris transillumination (80%) and a mud-splattered appearance of the posterior pole with typical pigmentary streaks in the peripheral fundus (92%).2 The pathogenesis of these streaks has not been understood.

Figures in this Article

Sign In to Access Full Content

Don't have Access?

Register and get free email Table of Contents alerts, saved searches, PowerPoint downloads, CME quizzes, and more

Subscribe for full-text access to content from 1998 forward and a host of useful features

Activate your current subscription (AMA members and current subscribers)

Purchase Online Access to this article for 24 hours

First Page Preview

View Large
/>
First page PDF preview

Figures

Place holder to copy figure label and caption
Graphic Jump Location

Figure 1. Fundus autofluorescence image of the posterior pole of the right eye of the X-linked ocular albinism obligate carrier, demonstrating the typical mud-splattered appearance of the retinal pigment epithelium. Hypoautofluorescent areas correspond to hyperpigmented areas of retinal pigment epithelium. Similarly, hyperautofluorescent areas correspond to hypopigmented areas on the color fundus photograph.

Place holder to copy figure label and caption
Graphic Jump Location

Figure 2. Color fundus photograph and late-phase fluorescein angiogram. A, Color fundus photograph on a wide-angle instrument of the right eye of the X-linked ocular albinism obligate carrier, demonstrating the typical mud-splattered appearance of the posterior pole and the characteristic alternating hyperpigmented and hypopigmented peripheral streaks at the level of the retinal pigment epithelium. B, Late-phase fluorescein angiogram of the same eye showing normal retinal vasculature, blocking in hyperpigmented areas, and window defects in hypopigmented areas. Hypofluorescent areas correspond to hyperpigmented areas of retinal pigment epithelium. Similarly, hyperfluorescent areas correspond to hypopigmented areas on the color fundus photograph.

Place holder to copy figure label and caption
Graphic Jump Location

Figure 3. Schematic model of clonal populations of retinal pigment epithelial precursor cells proliferating and migrating in the peripheral fundus to produce the typical pattern of alternating hyperpigmented and hypopigmented streaks at the level of the retinal pigment epithelium. Artist: David Rini, MFA, Department of Art as Applied to Medicine, The Johns Hopkins University School of Medicine, 2012.

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.
NOTE:
Citing articles are presented as examples only. In non-demo SCM6 implementation, integration with CrossRef’s "Cited By" API will populate this tab (http://www.crossref.org/citedby.html).
Submit a Comment

Multimedia

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

Web of Science® Times Cited: 1

Sign In to Access Full Content

Related Content

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

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