Case Reports

A case report of fabry disease with corneal manifestation

Case Report Details

First Author: H.Hasani IRAN

Co Author(s):    S. Shamsoddinimotlagh                    

Abstract Details

Purpose:

To present Fabry disease with corneal manifestation in a young male

Setting:

Rassoul Akram Hospital, Iran University of Medical Siences

Report of Case:

We present the case of Fabry syndrome in A 37-year-old man who referred by Dermatology department for ocular evaluation, with angiokeratomas and acroparaesthesia. In past medical history, he had left ventricular hypertrophy, hypertension and a history of alcoholism. He had taken aspirin and metoprolol. His best-corrected visual acuity was 10/10 in both eyes. The fundoscopic examination was normal. Slit lamp examination revealed cornea verticillata. Enzyme-replacement therapy used for the patient and he got improved. Also, cornea verticillata faded gradually. early diagnosis and early treatment initiation leaded to stop constant organ damage.

Conclusion/Take Home Message:

Awareness of Fabry disease among eye specialists can lead to early detection and thus reduce morbidity and mortality

Financial Disclosure:

None