Fig 1.
Representative ocular changes seen in patients with Fabry disease.
Representative ocular changes include (A) cornea verticillata, (B) increased tortuosity of conjunctival vessels, and (C) increased tortuosity of retinal vessels.
Table 1.
Ophthalmological characteristics and treatment status.
Fig 2.
FOS-MSSI and ariFOS-MSSI score, and eye changes.
Median (A) FOS-MSSI and (B) ariFOS-MSSI scores in male and female adult patients with and without eye findings. ariFOS-MSSI = age-related individual Fabry Outcome Survey Mainz severity score index; FOS-MSSI = Fabry Outcome Survey Mainz severity score index. The median FOS-MSSI and ariFOS-MSSI scores represent the medians after removing cornea verticillata from the calculation of the FOS-MSSI score.
Fig 3.
Relationship between disease severity and age in children with and without any eye findings.
Scatter plot of FOS-MSSI score versus age (in years) at last FOS-MSSI score assessment, showing regression (trend) lines* for children with and without any eye findings. Children with eye findings (solid grey dots) had more severe disease across all ages than children without any eye findings (open black circles). Disease severity increased with age in both children with and without eye findings. CV = cornea verticillata; FOS-MSSI = Fabry Outcome Survey Mainz severity score index. *Regression lines were determined by the following equations: 1. With any eye findings: FOS-MSSI (removing cornea verticillata) = 3.638976 + 0.613467 × age at FOS-MSSI assessment. 2. Without any eye findings: FOS-MSSI (removing cornea verticillata) = 1.646037 + 0.497238 × age at FOS-MSSI assessment.
Fig 4.
Prevalence of eye findings by type of mutation.
Prevalence of eye findings overall (among those patients with mutation information available) and by type of mutation in adult (A) male and (B) female patients.
Fig 5.
Disease severity score by type of mutation and presence of cornea verticillata.
Median ariFOS-MSSI score by type of mutation and presence of cornea verticillata in adult (A) male and (B) female patients. ariFOS-MSSI = age-related individual Fabry Outcome Survey Mainz severity score index.