Ocular findings and their correlation with disease severity in Fabry disease in South-East Anatolia

To evaluate the ocular findings and the relationship between these findings and the disease severity of patients with Fabry disease (FD) in South-East Anatolia.

We enrolled the 24 eyes of 24 patients with FD and the disease severity scores were obtained with FD severity scoring system (DS3). The relationship between the presence of any ocular findings and DS3 scores was evaluated.

The mean age of the patients was 35.2 ± 8.6 years. The mean DS3 score and α-galactosidase A enzyme activity of the patients was 7.04 ± 3.71 and 1.93 ± 0.84 μmol/l/h, respectively. Of the 24 patients, 20 (83.3%) had cornea verticillate (CV), 18 (75%) had tortuous conjunctival vessels, 15 (62.5%) had tortuous retinal vessels and 3 (12.5%) had lens opacities. The ocular vascular abnormalities were associated with disease severity (p < 0.05); however, the presence of CV did not affect the DS3 scores (p > 0.05).

According to our study, the patients with ocular vascular abnormalities associated with FD had more severe disease than those who did not have an abnormality. CV was the most common ocular finding in FD, but it has no association with disease severity.