Conjunctival lymphangiectasia associated with classic Fabry disease

The British Journal of Ophthalmology
Melanie D SivleyWilliam J Benjamin

Abstract

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. 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. 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...Continue Reading

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Citations

May 11, 2019·Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis·Stéphanie HayekAntoine Rousseau
Nov 2, 2019·The British Journal of Ophthalmology·Melanie D Sivley, William J Benjamin
Jan 14, 2021·Molecular Genetics and Metabolism Reports·Marina Dutra-ClarkeVirginia Kimonis
Aug 24, 2021·Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus·Silvio PolizziGiovanna Ferrara

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