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 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. © 2013 langis michaud.