In vivo corneal confocal microscopy may be a better bet than slit-lamp exams alone in detecting corneal epithelial deposits in patients with Fabry disease, a study in the British Journal of Ophthalmology reports.

Researchers from Italy found the slit lamp had limited diagnostic power and a high number of false negative results that resulted in a low negative predictive value of just 16% in finding deposits.

The study enrolled 14 patients with Fabry disease and eight healthy controls. The investigators conducted both slit lamp exams and in vivo corneal confocal and found 32% of patients with Fabry showed the presence of cornea verticillata with the slit lamp, while 89% showed the presence of epithelial hyperreflective deposits with in vivo corneal confocal microscopy. Also of note: of the 19 eyes diagnosed as negative during slit lamp exam, 16 showed the presence of epithelial deposits with in vivo corneal confocal microscopy.

Compared with controls, the study reported patients with Fabry disease had a significantly reduced number, density and length of nerve fibers at the level of corneal sub-basal nerve plexus but a significantly higher grade of fibers tortuosity.

In vivo corneal confocal microscopy allows for the detection of corneal microstructural changes in patients with Fabry disease and may represent a reliable tool for the early diagnosis and follow-up of the condition, the researchers concluded in the study.