Relation entre les manifestations ophtalmologiques et les atteintes générales chez dix patients atteints de la maladie de Fabry

Abstract

To describe ocular manifestations in Fabry disease and compare them to other organ involvement in this disease. Ten patients were included in a clinical trial, all of whom had specialized investigations in ophthalmology, cardiology, nephrology and dermatology. All the patients presented with ocular damage, some of which were rather characteristic of this disease, such as cornea verticillata and spoke-like cataract. However, such anomalies were not responsible for any visual acuity changes in most patients. Some patients had renal or cardiovascular damage at early stages of the disease. We therefore tried to establish a correlation between the severity of such involvement and ocular damage. Many ocular manifestations are frequently observed that should suggest a diagnosis of Fabry disease. However, there is no clear relationship between the presentation of the systemic cardiac and renal manifestations of the disease and the presence of ocular abnormalities.