A Case Report on Fabry Disease with Valsalva Retinopathy

Introduction Fabry disease (FD) is an X-linked lysosomal storage disease that results in the deficiency of the enzyme α-galactosidase A and over-accumulation of glycosphingolipids in the cells of various bodily systems. The hallmark of FD is a whorl-like pattern on the cornea that has been described using a variety of terms including cornea verticillata, whorl keratopathy, vortex keratopathy, hurricane keratopathy, or Fabry keratopathy. Less commonly, vomiting associated with FD-related gastrointestinal distress can lead to Valsalva retinopathy. Case Report A 21-year-old African American female presented with complaints of a sudden-onset black spot in her vision in the right eye that was noticed after experiencing gastrointestinal pain and vomiting that morning. Best corrected visual acuities were 20/20 in both eyes with slit lamp examination revealing bilateral corneal verticillata and fundus exam showing a small vitreous hemorrhage in the right eye. Based on her history and exam findings she was referred for laboratory testing which was positive for FD. Conclusion This case of FD represents a unique opportunity for eye care practitioners to aid in the early detection of a potentially fatal genetic condition. A thorough case history and ocular examination can assist in the differential diagnosis of FD. Although rare, valsalva retinopathy should raise suspicion for FD when found in conjunction with corneal verticillata.