Abstract

Purpose: To evaluate the visual function of patients with cornea verticillata associated with Fabry disease through quantitative evaluations of contrast sensitivity function and straylight.

Methods: We enrolled 28 eyes of 14 patients with Fabry disease (mean age, 37.1 ± 17.2  years) and 20 eyes of 20 age-matched healthy controls. Comprehensive ophthalmological examinations were performed and contrast sensitivity and letter contrast sensitivity were measured for all patients, following which the area under the log contrast sensitivity function (AULCSF) was calculated. Straylight was quantified using a straylight metre. Furthermore, subgroup analysis was performed according to the whorl-like pattern of cornea verticillata (mild and typical groups).

Results: All 28 eyes showed cornea verticillata. Visual acuity and letter contrast sensitivity values were the same for normal eyes and those with Fabry disease. AULCSF differed by 0.15 log[s] between the eyes with Fabry disease and the control eyes (p < 0.001), while straylight differed by 0.45 log[s] between the two groups (p < 0.001). Subgroup analysis based on the whorl-like pattern of cornea verticillata showed that AULCSF and straylight differed by 0.11 log[s] and 0.08 log[s], respectively, between the typical and mild groups (p = 0.036 and p = 0.147, respectively).

Conclusion: Although cornea verticillata associated with Fabry disease does not affect the visual acuity and letter contrast sensitivity, more comprehensive testing of visual function by the inclusion of straylight and grating contrast sensitivity measurements shows clear functional deficits in these patients.