title: Retinal vascular tortuosity in a patient with weill-marchesani syndrome.
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.
authors.affiliation: Department of Ophthalmology, Whipps Cross University Hospital NHS Trust, Whipps Cross Road, Leytonstone, London E11 1NR, UK.
authors.forename: Kevin
authors.initials: K
authors.lastname: Gallagher
authors.forename: Tahrina
authors.initials: T
authors.lastname: Salam
authors.forename: Barron
authors.initials: B
authors.lastname: Sin
authors.forename: Sandy
authors.initials: S
authors.lastname: Gupta
authors.forename: Hadi
authors.initials: H
authors.lastname: Zambarakji