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Case Reports in Ophthalmological Medicine
Volume 2011 (2011), Article ID 952543, 2 pages
http://dx.doi.org/10.1155/2011/952543
Case Report

Retinal Vascular Tortuosity in a Patient with Weill-Marchesani Syndrome

1Department of Ophthalmology, Whipps Cross University Hospital NHS Trust, Whipps Cross Road, Leytonstone, London E11 1NR, UK
2Department of Cardiology, Whipps Cross University Hospital NHS Trust, Whipps Cross Road, Leytonstone, London E11 1NR, UK

Received 6 November 2011; Accepted 4 December 2011

Academic Editors: N. Fuse and D. K. Roberts

Copyright © 2011 Kevin Gallagher et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Weill-Marchesani syndrome (WMS) is a rare connective tissue disorder with characteristic phenotypic skeletal and ocular manifestations. A 28-year-old myopic female presented with an 8-month history of bilateral blurred vision. On examination, she was noted to be of short stature with brachydactyly. On ocular examination, she was found to be spherophakic with bilateral inferiorly subluxated lenses. Serum and urine homocysteine were normal and a syphilis screen was negative. A diagnosis of Weill-Marchesani syndrome was made. Fundoscopy revealed bilateral tortuous retinal vessels. We report the first illustrated case of retinal vascular tortuosity as an ocular manifestation of Weill-Marchesani syndrome.