Background Fabry disease (FD) is a treatable multisystem disease caused by a defect in the alpha-galactosidase gene. Ocular signs of FD, including corneal verticillata, are among the earliest diagnostic findings. Conjunctival lymphangiectasia (CL) has not previously been associated with FD.
Methods We examined the eyes of a cohort of 13 adult patients, eight men and five women, with documented classic FD, all treated with enzyme replacement therapy (ERT) at the University of Alabama at Birmingham between February 2014 and April 2015. The average age was 48 years with a range of 35–55 years for men and 21–71 years for women. The mean duration of ERT was 8.4 years (men 8.9 years, women 7.6 years) with a range of 4–14 years. Classical Fabry mutations included Q283X, R227X, W236X and W277X. A high resolution Haag-Streit BQ-900 slit lamp with EyeCap imaging system was used to record conjunctival images.
Results CL was observed in 11 of the 13 patients (85%) despite long-term ERT. Clinical presentations included single cysts, beaded dilatations and areas of conjunctival oedema. Lesions were located within 6 mm of the corneal limbus. Ten of the 13 subjects (77%) had Fabry-related cataracts and all 13 demonstrated bilateral corneal verticillata. Twelve of the 13 patients had evidence of dry eye, 9 of whom were symptomatic, and 10 had peripheral lymphoedema.
Conclusion CL represents a common but under-recognised ocular manifestation of FD, which persists despite ERT, and is often accompanied by peripheral lymphoedema and dry eye syndrome.
- Ocular surface
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Contributors MDS, ELW and DGW participated in data analysis, interpretation and writing of the manuscript. WJB participated in writing the manuscript.
Competing interests MDS is an employee of the University of Alabama at Birmingham and Cleveland Eye Care and has undertaken contracted research for Genzyme. ELW is an employee of the University of Alabama at Birmingham, received consulting fees from Genzyme and received fees directly for non-CME/CE services from Genzyme. DGW is an employee of the University of Alabama at Birmingham, received consulting fees from Genzyme, Actelion, Amicus and Protalix, received fees directly for non-CME/CE services from Genzyme and also has undertaken contracted research for Genzyme. WJB is an employee of the University of Alabama at Birmingham and Alabama Eye & Cataract Center, received consulting fees from Material Performance Assessments and has undertaken contracted research for Genzyme.
Patient consent Patient consent was not obtained since this article contains no identifiable images or personal medical information about any identifiable living or deceased individual, and patient consent forms are not required according to patient consent and confidentiality policies of the BJO.
Provenance and peer review Not commissioned; externally peer reviewed.