Posters
Ocular findings of Fabry disease patients
Poster Details
First Author: M.Palamar TURKEY
Co Author(s): H. Onay S. Kalkan Ucar S. Duman E. Sozmen A. Coker
Abstract Details
Purpose:
To evaluate the ocular findings of Fabry disease patients.
Setting:
Ege University Faculty of Medicine, Departments of Ophthalmology, Medical Genetics, Peadiatric Metabolism, Nephrology, Biochemistry, Izmir, Turkey.
Methods:
Routine ophthalmologic evaluation including anterior and dilated posterior segment evaluation of Fabry disease patients was performed.
Results:
A total of 15 (9 male, 6 female) Fabry disease patients were enrolled. Mean age of the patients were 42.26±14.65 (range, 22 and 74). Cornea vertisillata was present in 10 (66%) of the patients. Increased conjunctival vascular tortuosity was present in all (100%) patients. Conjunctival vascular saccular changes was present in 12 (80%) patients. Cataract was present in 5 (33%) of the patients (2 punctiform, 2 sectorial, 1 posterior subcapsular). Increased retinal vascular tortuosity was present in 7 (46%) patients.
Conclusions:
Conjunctival vascular tortuosity increment and conjunctival vascular saccular changes are the most common findings of Fabry disease. Cornea vertisillata presence follows these two changes. For this reason increased conjunctival vascular tortuosity or saccular changes in conjunctival vessels should alert the ophthalmologist to question Fabry disease related symptoms.
Financial Disclosure:
gains financially from competing product or procedure, travel has been funded, fully or partially, by a company producing, developing or supplying the product or procedure presented, research is funded, fully or partially, by a company producing, developing or supplying the product or procedure presented, receives non-monetary benefits from a company producing, developing or supplying the product or procedure presented, receives consulting fees, retainer, or contract payments from a company producing, developing or supplying the product or procedure presented, is employed by a competing company, has significant investment interest in a company producing, developing or supplying product or procedure presented
