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Paediatric Fabry disease: prognostic significance of ocular changes for disease severity
Gisela Kalkum1, Susanne Pitz2, Nesrin Karabul3
1Department of Paediatrics, Helios-Dr-Horst-Schmidt-Kliniken HSK, Ludwig-Erhard-Strasse 100, 65199, Wiesbaden, Germany. g.kalkum@web.de.
Insights
Ocular signs like cornea verticillata are common in children with Fabry disease, indicating more severe illness. Early detection of these eye findings aids in diagnosing Fabry disease and identifying at-risk pediatric patients.
Area of Science:
- Ophthalmology
- Genetics
- Pediatrics
Background:
- Fabry disease, a rare genetic disorder, can manifest ocular signs early in childhood.
- Ocular manifestations are key indicators of disease progression and severity.
Purpose of the Study:
- To investigate the prevalence of ocular signs in pediatric patients with Fabry disease.
- To determine the association between ocular findings and disease severity using the FOS Mainz severity score index (FOS-MSSI).
Main Methods:
- Analysis of ocular signs in 232 pediatric patients from the Fabry Outcome Survey (FOS) international registry.
- Correlation of eye findings with FOS-MSSI scores to assess disease severity.
Main Results:
- Over half of pediatric patients exhibited at least one ocular sign, with cornea verticillata being most frequent.
- Children with ocular findings had significantly higher FOS-MSSI scores, indicating more severe Fabry disease.
- Ocular signs were more prevalent in treated (59.1%) versus untreated (37.9%) children.
Conclusions:
- Ocular signs, especially cornea verticillata, are reliable indicators of increased disease severity in pediatric Fabry disease patients.
- These findings underscore the diagnostic value of ocular examinations in children with Fabry disease.
- Identifying ocular signs can help pinpoint children at risk for severe early-onset Fabry disease, necessitating close monitoring and evaluation.
Background:
Ocular signs of Fabry disease can be seen in the first decade of life.
Methods:
We examined the occurrence of ocular signs in 232 paediatric patients in the Fabry Outcome Survey (FOS) international registry and looked for relationships between the presence of eye findings and disease severity as measured by the FOS Mainz severity score index (FOS-MSSI).
Results:
At least one ocular sign was found in 55/101 (54.5%) girls and 62/131 (47.3%) boys: cornea verticillata in 53/101 (52.5%) girls and 55/131 (42.0%) boys, vessel tortuosity in 17/98 (17.3%) girls and 32/131 (24.4%) boys, and posterior spoke-like lens opacities in 3/97 (3.1%) girls and 2/130 (1.5%) boys. Summary statistics showed higher median (range) age-adjusted FOS-MSSI total score indicating more severe disease in children with eye findings versus those without eye findings (0.5 [-11.0, 20.7] versus -2.3 [-11.1, 18.8]). At least one eye finding was observed in 59.1% of treated and 37.9% of untreated children.
Conclusions:
We conclude that the presence of ocular signs, particularly cornea verticillata, correlates with more severe disease as indicated by FOS-MSSI scores in paediatric patients with Fabry disease. Ocular signs appear in roughly half of school-aged children with Fabry disease and are well-recognised as a valuable tool for diagnosis of Fabry disease in children; they also may help identify patients who are at risk for developing early severe manifestations of Fabry disease and who should be further evaluated and closely followed up.
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