Fabry disease: a survey of visual and ocular symptoms

Abstract

Purpose

To evaluate a visual symptoms survey on patients with a known diagnosis of Fabry disease, and to compare the scores to those from a group of healthy subjects.

Materials and methods

An ocular symptom survey instrument was used to evaluate the symptoms of general ocular problems like itching, tearing, dryness, burning sensation, sensation of foreign body, difficulty in scotopic and photopic vision, and asthenopic symptoms. The survey instrument was administered to 95 participants (75 patients with Fabry disease and 20 healthy controls; median age: 32.5 years [standard deviation: 19.1 years] and 42.6 years [standard deviation: 14.7 years], respectively). A Mann–Whitney test was performed to evaluate the difference between the Fabry group and the healthy controls for each symptom survey severity score. A P-value <0.05 was considered significant.

Results

Of the survey instrument items, it was found that compared to the control group, the mean severity score of the Fabry disease group was significant for “dryness” of the eyes (P=0.02), “blurry/dim vision” (P=0.02), “hard to see in dark places” (P=0.01), and “halos around light” (P=0.01). The Fabry group also had a mean severity score for “soreness/tiredness” that was significantly higher than that of the control group (P=0.009).

Conclusion

The patients with Fabry disease may be suffering from ocular and visual symptoms related to manifestations of the disease. Further quantitative testing is needed to investigate the ocular and visual symptoms.

Keywords:

• Fabry disease
• lysosomal storage disease
• visual symptoms

Supplementary material

Table S1 A tally of the study participants that reported experiencing symptoms in the Fabry group and the control group

Acknowledgments

I would like to thank Mr Jerry Walter, Founder and President of the National Fabry Disease Foundation (NFDF), and Mr Jack Johnson, Executive Director of the Fabry Support and Information Group, for their kind help in administering the survey to Fabry patients. I would also like to thank Mr Nate Klingensmith of Haag Streit USA for his assistance in the ocular imaging of the Fabry group, Mr Jack Greenan for the data entry related to the study, and Dr Rebecca Kammer for her interesting discussions about survey instruments and disease.

Disclosure

The author reports no conflicts of interest in this work.