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.
Highlights
Case ReportWeill-Marchesani syndrome (WMS) is a rare connective tissue disorder with characteristic phenotypic skeletal and ocular manifestations
Weill-Marchesani syndrome (WMS) is a rare connective tissue disorder with characteristic phenotypic features of short stature, brachycephaly, brachydactyly with limited range of joint movement
We present an illustrated case of retinal vascular tortuosity in WMS in the absence of congenital heart disease
Summary
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. 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. We report the first illustrated case of retinal vascular tortuosity as an ocular manifestation of Weill-Marchesani syndrome
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