Ocular Manifestations of Fabry Disease: Report from a Tertiary Eye Care Center in Türkiye

Objectives: To report ocular manifestations in patients with Fabry disease (FD) from a tertiary eye care center in Türkiye.Materials and Methods: This prospective, cross-sectional study included 30 eyes of 15 patients with FD.The diagnosis of FD was made based on a combination of clinical findings, genetic analysis, and biochemical evaluation.All participants underwent a detailed ophthalmic examination with special focus on the typical ocular features of FD (cornea verticillata, conjunctival aneurysms, cataract, retinal vessel tortuosity).Results: The mean age was 45±17 years (range: 22-75 years), with a female/male ratio of 2:3.All patients had tortuous conjunctival vessels and 12 patients (80%) had conjunctival aneurysms.Cornea verticillata was present in 10 patients (66.6%), lens opacification in 4 patients (26.6%), and retinal vascular tortuosity in 8 patients (53.3%).All patients had at least two different ocular findings; most (3 heterozygotes/7 hemizygotes) had a combination of corneal verticillata and conjunctival vessel abnormality.The conjunctiva, cornea, and retina were affected together in 5 hemizygous patients (33.3%).One hemizygous patient had all FDrelated ocular manifestations in both eyes. Conclusion:To our knowledge, this study is the first to describe the ocular manifestations of FD in the Turkish population.Although cornea verticillata is considered a hallmark of FD, it was absent in approximately Ocular Manifestations of Fabry Disease: Report from a Tertiary Eye Care Center in Türkiye