Fabry disease - without cornea verticillata - diagnosed upon ophthalmic examination

Palamar Onay M. , Onay H. , Kalkan Uçar S. , Yıldırım Sözmen E. , Çoker M.

10th EUCornea Congress, Paris, France, 13 - 14 September 2019, pp.12-13

  • Publication Type: Conference Paper / Summary Text
  • City: Paris
  • Country: France
  • Page Numbers: pp.12-13


Purpose: To report a female patient who was diagnosed with Fabry disease upon ophthalmic examination.

Case Report: A 39 year old female who was diagnosed with an unclassified connective tissue disorder since she was 10 years old attended to our department with foreign body sensation. She also complained about severe burning in her hands and feet. Her best corrected visual acuity was 0.6 OD, 0.8 OS. Schirmer 1 test score was 3 mm OU, tear film break-up time was 4 seconds OU. On anterior segment evaluation the conjunctival vessels were very tortuoised, cornea was clear with no deposits. She had a developmental cataract in the right eye and was pseudophakic in the left eye. Dilated fundus examination was within normal limits.

Results: She was put on artificial tears and topical cyclosporine for dry eye. The unclassified romatologic disease, neuropathy related burning of the hands and the feet, awkward tortuosity of the conjunctival vessels led to the idea of Fabry disease. Upon genetic analysis and alpha-galactosidase enzyme level measurement Fabry disease was diagnosed and she was put on enzyme replacement therapy.

Conclusion: Fabry disease is a rare and a masquerading entity with many ophthalmic signs and symptoms. The cautiousness of the ophthalmologist might ease the diagnose of the disease.