Results of an ophthalmologic screening programme for identification of cases with Anderson-Fabry disease

Ophthalmologica. 2004 May-Jun;218(3):207-9. doi: 10.1159/000076846.


Purpose: Anderson-Fabry disease is an inherited lysosomal storage disease with a broad and unspecific range of symptoms, a painful course of disease and early death. The recent development of new enzyme therapy emphasises the need for early diagnosis and treatment of undiagnosed patients. One of the affected organs of Anderson-Fabry disease is the eye. Cornea verticillata--corneal opacities and corneal dystrophy--as well as tortuositas vasorum can occur in an early stage of the disease affecting almost all hemizygous men and more than 70% of heterozygous women. In order to identify unknown cases with Anderson-Fabry disease, we carried out a screening programme contacting Austrian ophthalmologists.

Methods: All 658 Austrian ophthalmologists were asked to record patients with cornea verticillata as well as tortuositas vasorum--twice at an interval of 3 months.

Results: 33% of the contacted ophthalmologists replied, identifying 5 patients suspected of having Anderson-Fabry disease. After additional examinations including tests for enzyme activities Anderson-Fabry disease was confirmed in 1 man.

Conclusion: We have identified 1 case with Anderson-Fabry disease through our ophthalmology screening programme among a population of approximately of 8 million. Ophthalmologic screening programmes for ocular manifestations typical of Anderson-Fabry disease are limited because of the moderate visual affection in these patients. Nevertheless, considering the limited options to detect such cases otherwise, ophthalmologists have a major responsibility to identify patients with Anderson-Fabry disease on routine examinations.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Austria / epidemiology
  • Fabry Disease / diagnosis*
  • Fabry Disease / epidemiology*
  • Female
  • Humans
  • Incidence
  • Internship and Residency
  • Male
  • Mass Screening*
  • Ophthalmology / methods
  • Physicians
  • Surveys and Questionnaires