Ocular changes in Fabry disease

Olav H. Haugen 1 and Camilla Tøndel 2, Einar Svarstad 3

1 Department of Ophthalmology and 2Department of Pediatrics, 3Department of Medicine,

Haukeland University Hospital

Bergen, Norway

Aim of study:

To document the type and frequency of ocular changes in Fabry disease and study possible changes over time.

Methods:

During the years 2001-2004, 34 patients (14 males, 20 females, 5-76 years old) with Fabry disease were examined regarding visual function and ocular changes. Sixteen of these (47%) were available for an eye examination five years later.

Results:

Corneal changes (cornea verticillata) of different severity were very common (94%). There was a high degree of similarity between the changes in the right and left eye. A star-shaped opacity was present in the posterior lens capsule in ten patients, more common in males than females (71 and 15%, respectively). These opacities were always bilateral, and there were more pronounced in the male patients. Various degrees of tortuosity of the retinal vessels were present in 13 patients (38%).

Of the sixteen patients who were re-examined after five years, seven had received enzyme replacement therapy. In one of these patients, the corneal changes had almost disappeared, while it was evaluated as unchanged or increased in the others. Clinically, the lens opacities remained also unchanged, regardless of treatment.

Visual acuity was unaffected by both corneal and lens changes.

Conclusion:

The finding of cornea verticillata is highly suggestive of Fabry disease. The ocular changes are of little importance to visual function. It is however important that ophthalmologists are aware of the ocular changes. To make the diagnosis of Fabry disease may be of great importance for the patient, as specific treatment in terms of enzyme replacement therapy now is available.