Ocular Manifestations of Fabry Disease: Report from a Tertiary Eye Care Center in Türkiye.
Ilayda KorkmazSema Kalkan UçarHüseyin OnayEser Yıldırım SözmenMahmut ÇokerMelis PalamarPublished in: Turkish journal of ophthalmology (2024)
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 one-third of patients. Moreover, cataract, another well-known feature of FD, was present in only 26.6% of the patients. Conjunctival vascular abnormality alone seems to be quite rare in FD, although it often accompanies other ocular manifestations. Therefore, recognition of other mild findings and special consideration of their associations may increase the diagnostic value of ocular findings in FD.