Back to Journals » Clinical Ophthalmology » Volume 6

Optical coherence tomography and fundus autofluorescence imaging study of chorioretinal atrophy involving the macula in Alagille syndrome

Authors Makino S, Ohkubo, Tampo H

Received 20 July 2012

Accepted for publication 7 August 2012

Published 6 September 2012 Volume 2012:6 Pages 1445—1448


Checked for plagiarism Yes

Review by Single anonymous peer review

Peer reviewer comments 3

Shinji Makino, Yuko Ohkubo, Hironobu Tampo

Department of Ophthalmology, Jichi Medical University, Shimotsuke, Tochigi, Japan

Abstract: We report the first case in the literature of chorioretinal atrophy involving the macula in an 11-year-old girl with Alagille syndrome, as examined by optical coherence tomography, and fundus autofluorescence imaging. Funduscopy revealed diffuse choroidal hypopigmentation with increased visibility of the choroidal vessels and symmetric, well circumscribed macular discoloration. Anomalous oblique configuration of the optic disc and peripapillary tortuous vessels were also detected. Optical coherence tomography demonstrated decreased retinal thickness, especially the outer retinal layer, and the photoreceptor inner segment/outer segment junctions were irregular and discontinued, corresponding to macular discoloration. Fundus autofluorescence imaging clearly defined hypofluorescent areas in the peripapillary regions that extended along the macula and had a sleep mask appearance. We suggest that transient hypovitaminosis due to Alagille syndrome early in life might contribute to the retinal degeneration seen in this case.

Keywords: Alagille syndrome, chorioretinal atrophy, optical coherence tomography, fundus autofluorescence imaging, hypovitaminosis

Creative Commons License © 2012 The Author(s). This work is published and licensed by Dove Medical Press Limited. The full terms of this license are available at and incorporate the Creative Commons Attribution - Non Commercial (unported, v3.0) License. By accessing the work you hereby accept the Terms. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed. For permission for commercial use of this work, please see paragraphs 4.2 and 5 of our Terms.