Corneal densitometry: a potential indicator for early diagnosis of Fabry disease

To assess corneal densitometry in patients with Fabry disease (FD) and to compare corneal densitometry differences in FD patients to different corneal manifestations.

Ten participants (20 eyes) with FD and 10 age-matched healthy volunteers (20 eyes) were recruited. All participants were assessed by standardized ophthalmic examinations and the corneal densitometry analysis by Pentacam HR. Densitometry measurements were analyzed in standardized grayscale units.

Seven patients developed conjunctival vessel tortuosity, cornea verticillata appeared in 6 patients, and two patients had Fabry cataract. Retinal vessel tortuosity occurred in 4 patients, and dilation of retinal vessels appeared in 3 patients, all symptoms occurred in both eyes. The first diagnosis of FD up to examination was 4.7 ± 3.23 years, and first ERT up to examination was 2.6 ± 2.27 years. The initial time to diagnosis was negatively related to the corneal densitometry value of the 0–2-mm (r = − 0.556, p = 0.011) and 2–6-mm (r = − 0.482, p = 0.032) zones in the posterior layer. FD group have significantly higher corneal densitometry in anterior 0–2-mm zone and 2–10-mm zone anterior and posterior layer than the control group (p ≤ 0.035, respectively). When divided into two groups by the existence of cornea verticillata, there was a statistically significant difference in the anterior layer, 6–10-mm zone (p = 0.031); in the central layer, 0–2 mm (p = 0.012), 2–6 mm (p = 0.001), 6–10 mm (p = 0.002), and total (p = 0.002); and in the posterior layer, 6–10 mm (p = 0.004) and total (p = 0.002).

FD patients show higher corneal densitometry, and corneal densitometry may have potential for early diagnosis and reminding progress of FD.