Posters

Ophthalmological manifestations of Fabry disease

Poster Details

First Author: A.Redouan MOROCCO

Co Author(s): M. Yassine   I. Rafik   M. Khalifi   L. El Maaloum   B. Allali   A. El Kettani     

Abstract Details

Purpose:

interest of ophthalmological examination in the diagnosis of fabry's disease

Setting:

HOSPITAL  20 AOUT1953 Faculty of Medicine and Pharmacy Casablanca

Methods:

it is a medical observation of a patient aged 45 years followed in cardiology for hypertrophic cardiomyopathy of undetermined etiology who has a decrease visual acuity that goes back a year, addressed to the ophthalmology department for a ophthalmological examination

Results:

at the Ophthalmological examination,corrected visual acuity is 08/10(P2) at both eyes,the slit lamp examination finds increased vessel tortuosity and corneal opacities (cornea verticillata) at both eyes.The rest of the ophthalmological examination is without particularities. After elimination of a drugs toxicity (amiodarone, chloroquine and hydroxychloroquine), an enzymatic dosage showed absence of enzymatic activity of alpha-galactosidase in leukocytes.a genitic survey is started.

Conclusions:

The presence of cornea verticillata is highly sensitive and specific for Fabry disease in both male and female patients.Cornea verticillata can therefore be considered a useful ophthalmological marker for Fabry disease. The study of eye abnormalities can aid diagnosis but does not significantly improve the accuracy of monitoring progression of the disease and its response to treatment

Financial Disclosure:

None