Retinal Vascular Tortuosity in a Patient with Weill-Marchesani Syndrome
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....
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| Format: | Article |
| Language: | English |
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Wiley
2011-01-01
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| Series: | Case Reports in Ophthalmological Medicine |
| Online Access: | http://dx.doi.org/10.1155/2011/952543 |
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| author | Kevin Gallagher Tahrina Salam Barron Sin Sandy Gupta Hadi Zambarakji |
| author_facet | Kevin Gallagher Tahrina Salam Barron Sin Sandy Gupta Hadi Zambarakji |
| author_sort | Kevin Gallagher |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-5cbe239b41fd46c8960ed0a711a9656e |
| institution | OA Journals |
| issn | 2090-6722 2090-6730 |
| language | English |
| publishDate | 2011-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Ophthalmological Medicine |
| spelling | doaj-art-5cbe239b41fd46c8960ed0a711a9656e2025-08-20T02:04:59ZengWileyCase Reports in Ophthalmological Medicine2090-67222090-67302011-01-01201110.1155/2011/952543952543Retinal Vascular Tortuosity in a Patient with Weill-Marchesani SyndromeKevin Gallagher0Tahrina Salam1Barron Sin2Sandy Gupta3Hadi Zambarakji4Department of Ophthalmology, Whipps Cross University Hospital NHS Trust, Whipps Cross Road, Leytonstone, London E11 1NR, UKDepartment of Ophthalmology, Whipps Cross University Hospital NHS Trust, Whipps Cross Road, Leytonstone, London E11 1NR, UKDepartment of Cardiology, Whipps Cross University Hospital NHS Trust, Whipps Cross Road, Leytonstone, London E11 1NR, UKDepartment of Cardiology, Whipps Cross University Hospital NHS Trust, Whipps Cross Road, Leytonstone, London E11 1NR, UKDepartment of Ophthalmology, Whipps Cross University Hospital NHS Trust, Whipps Cross Road, Leytonstone, London E11 1NR, UKWeill-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.http://dx.doi.org/10.1155/2011/952543 |
| spellingShingle | Kevin Gallagher Tahrina Salam Barron Sin Sandy Gupta Hadi Zambarakji Retinal Vascular Tortuosity in a Patient with Weill-Marchesani Syndrome Case Reports in Ophthalmological Medicine |
| title | Retinal Vascular Tortuosity in a Patient with Weill-Marchesani Syndrome |
| title_full | Retinal Vascular Tortuosity in a Patient with Weill-Marchesani Syndrome |
| title_fullStr | Retinal Vascular Tortuosity in a Patient with Weill-Marchesani Syndrome |
| title_full_unstemmed | Retinal Vascular Tortuosity in a Patient with Weill-Marchesani Syndrome |
| title_short | Retinal Vascular Tortuosity in a Patient with Weill-Marchesani Syndrome |
| title_sort | retinal vascular tortuosity in a patient with weill marchesani syndrome |
| url | http://dx.doi.org/10.1155/2011/952543 |
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