Vascular Tortuosities of the Upper Eyelid: A New Clinical Finding in Fabry Patient Screening

Purpose. To report a new clinical finding related to Fabry disease. Methods. Fabry subjects were enrolled in the study, matched for age and sex with healthy individuals as a control group. This is a prospective review of all upper lid pictures taken for every subject at their last visit. A 4-step gr...

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Main Author: Langis Michaud
Format: Article
Language:English
Published: Wiley 2013-01-01
Series:Journal of Ophthalmology
Online Access:http://dx.doi.org/10.1155/2013/207573
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author Langis Michaud
author_facet Langis Michaud
author_sort Langis Michaud
collection DOAJ
description Purpose. To report a new clinical finding related to Fabry disease. Methods. Fabry subjects were enrolled in the study, matched for age and sex with healthy individuals as a control group. This is a prospective review of all upper lid pictures taken for every subject at their last visit. A 4-step grading scale is proposed to classify this new entity. Results. Group A (Fabry) comprised 16 males and 22 females, aged 40 (±14) years on average. Group B (control) comprised 7 males and 8 females, aged 37 (±12) Vessels tortuosity was identified on the external superior lid in 36 of the Fabry patients (94.7%), while none of the subjects in group B showed similar vessels tortuosity. In addition, microaneurysms (MAs) were found in 10/38 group A subjects while none in group B presented a similar finding. The differences are highly significant. Conclusion. This paper proposes that blood vessels tortuosity on the upper eyelid be recognized as a new clinical entity for inclusion among the classic ocular manifestations of Fabry’s disease. Without evidence of any negative impact, it should be considered a benign sign contributing to evidence of suspected Fabry disease.
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spelling doaj-art-3c0013e16a8c491e8d084db1a83627162025-02-03T05:53:48ZengWileyJournal of Ophthalmology2090-004X2090-00582013-01-01201310.1155/2013/207573207573Vascular Tortuosities of the Upper Eyelid: A New Clinical Finding in Fabry Patient ScreeningLangis Michaud0École d’Optométrie de l’Université de Montréal, 3744 Jean Brillant, Suite 190-70, Montreal, QC, H3T 1P1, CanadaPurpose. To report a new clinical finding related to Fabry disease. Methods. Fabry subjects were enrolled in the study, matched for age and sex with healthy individuals as a control group. This is a prospective review of all upper lid pictures taken for every subject at their last visit. A 4-step grading scale is proposed to classify this new entity. Results. Group A (Fabry) comprised 16 males and 22 females, aged 40 (±14) years on average. Group B (control) comprised 7 males and 8 females, aged 37 (±12) Vessels tortuosity was identified on the external superior lid in 36 of the Fabry patients (94.7%), while none of the subjects in group B showed similar vessels tortuosity. In addition, microaneurysms (MAs) were found in 10/38 group A subjects while none in group B presented a similar finding. The differences are highly significant. Conclusion. This paper proposes that blood vessels tortuosity on the upper eyelid be recognized as a new clinical entity for inclusion among the classic ocular manifestations of Fabry’s disease. Without evidence of any negative impact, it should be considered a benign sign contributing to evidence of suspected Fabry disease.http://dx.doi.org/10.1155/2013/207573
spellingShingle Langis Michaud
Vascular Tortuosities of the Upper Eyelid: A New Clinical Finding in Fabry Patient Screening
Journal of Ophthalmology
title Vascular Tortuosities of the Upper Eyelid: A New Clinical Finding in Fabry Patient Screening
title_full Vascular Tortuosities of the Upper Eyelid: A New Clinical Finding in Fabry Patient Screening
title_fullStr Vascular Tortuosities of the Upper Eyelid: A New Clinical Finding in Fabry Patient Screening
title_full_unstemmed Vascular Tortuosities of the Upper Eyelid: A New Clinical Finding in Fabry Patient Screening
title_short Vascular Tortuosities of the Upper Eyelid: A New Clinical Finding in Fabry Patient Screening
title_sort vascular tortuosities of the upper eyelid a new clinical finding in fabry patient screening
url http://dx.doi.org/10.1155/2013/207573
work_keys_str_mv AT langismichaud vasculartortuositiesoftheuppereyelidanewclinicalfindinginfabrypatientscreening