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

Abstract EN

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.