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MD, Ophthalmologist, Ophthalmology Department of Dışkapı Yıldırım Beyazıt Training and Research Hospital, Health Sciences University, Ankara, Turkey DOI : 10.37845/ret.vit.2021.30.18 The aim of this report is to describe the ophthalmic findings of a 27-year-old patient with Fabry disease. Best corrected visual acuity was 20/20 and intraocular pressure was 19 mmHg in both eyes. There was an infi ltrate on cornea bilaterally (cornea verticillata), increased tortuosity in conjunctival vessels, a hemangioma on the lower lid of the right eye. The temporal paleness of both optic nerves was noticed with slit lamp biomicroscope and colored fundus photography. Also, there was mild venous tortuosity in retinal vessels. Visual field test, tear function tests, SdOCT findings were all normal in both eyes. In Fabry disease, clinical manifestations begin in childhood, and it affects multiple organ systems which can lead to an early death. Ocular findings are an early onset of the disease, so clinical examination of these findings are important to suspect and request consultations from other clinical disciplines to establish a defi nitive diagnosis earlier. Keywords : Cornea verticillata, Fabry disease, Globotriaosylceramide, Glycosphingolipid, Vascular tortuosity