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Langis Michaud; 5-years longitudinal assessment of ocular manifestations in Fabry patients. Invest. Ophthalmol. Vis. Sci. 2018;59(9):3776.
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© ARVO (1962-2015); The Authors (2016-present)
Fabry disease is a life-threatening rare lysosomal storage disorder, underdiagnosed, and characterized by early ocular manifestations. EyeCare practitioners are therefore a prime candidate to screen patients for Fabry disease. This study was conducted to assess ocular manifestations prevalence in a cohort of Fabry patients and to document their evolution over five years.
This is an observational study. Clinical assessment included full case history (visual symptoms and needs), binocular vision and refractive status, slit lamp evaluation and photo-documentation, high-order aberrations evaluation, OCT of the anterior and posterior segments, threshold visual field,and corneal hysteresis. Subjects had been seen from 2010 to 2015, and a complete set of data was recorded at every visit.
45 subjects were recruited (24 M, 21 F), the average age of 38 (+/- 14.2 y.o.). Cornea verticilatta was the most common ocular sign found, followed by conjunctival vessels tortuosities. New findings include upper lid vessels tortuosity with a strong correlation between microaneurysm seen on the upper external lid and those on the bulbar conjunctiva. Microaneurysms were seen elsewhere (inner canthus, lower palpebral conjunctiva) in some individuals. Corneal pigmentation did not vary significantly over time but was strongly correlated with the disease severity. Retinal blood vessel tortuosities evolve as the disease progresses. Enzyme therapy does not seem to influence this outcome.
Ocular manifestations are present is most Fabry patients, are asymmetric from OD to OS and some evolve with disease severity while others remain stable. A new clinical finding was found and may contribute improving screening of patients affected by Fabry disease.
This is an abstract that was submitted for the 2018 ARVO Annual Meeting, held in Honolulu, Hawaii, April 29 - May 3, 2018.
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