May 2004
Volume 45, Issue 13
ARVO Annual Meeting Abstract  |   May 2004
Ocular manifestations of Fabry Disease
Author Affiliations & Notes
  • D.A. Bar
    Ophthalmology, Hospital Aleman, Capital Federal, Argentina
  • P.C. Holzman
    Ophthalmology, Hospital Aleman, Capital Federal, Argentina
  • P.S. Cremonini
    Ophthalmology, Hospital Aleman, Capital Federal, Argentina
  • N.A. Chamoles
    Genetics, Fundacion para el estudio de enfermedades neurometabolicas, Capital Federal, Argentina
  • J.A. Badia
    Ophthalmology, Hospital Aleman, Capital Federal, Argentina
  • Footnotes
    Commercial Relationships  D.A. Bar, None; P.C. Holzman, None; P.S. Cremonini, None; N.A. Chamoles, None; J.A. Badia, None.
  • Footnotes
    Support  none
Investigative Ophthalmology & Visual Science May 2004, Vol.45, 4735. doi:
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      D.A. Bar, P.C. Holzman, P.S. Cremonini, N.A. Chamoles, J.A. Badia; Ocular manifestations of Fabry Disease . Invest. Ophthalmol. Vis. Sci. 2004;45(13):4735.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract: : Objective: To describe and determine the incidence of the ocular manifestations of Fabry disease (FD) or angiokeratoma corporis difusum universale, a disease caused by an X–linked inborn error of glycosphingolipid metabolism due to the deficiency of alfa–galactosidasa A enzyme (a–gal), a lisosomal enzyme. We correlate these manifestations to the other systemic alterations. Materials and Methods: We performed a systematic evaluation of 6 male patients (hemizygous) aged 19–32 years old with FD and 7 female porters (heterozygous) aged 26–56 years old. All belonged to 4 different families. All patients underwent complete ocular examination that included: best corrected visual acuity examination, biomichroscopy, Goldman tonometry and fundus examination with indirect ophthalmoscopy. Results: Ocular findings were the following: 1/6 of male patients (homozygous) had eyelid edema, 1/6 had conjunctival vascular dilatation, 3/6 had corneal opacities, 1/6 had star–shaped cataract, 3/6 had retinal vascular tortuosity. Among female patients (heterozygous), 2/7 had cornea verticillata, and 3/7 had retinal vascular tortuosity. We could not find a positive correlation between ocular findings and the severity of the disease using these parameters: renal insufficiency, gastrointestinal disorders and central nervous system manifestations. Conclusions: None of our cases presented diminished visual acuity. Even thought the only patognomonic manifestation was star–shaped cataract, in our series the most frequent finding were both retinal vascular tortuosity and corneal opacities. If any of the ocular findings described above are found in routine examination, further investigation to discard FD is required.

Keywords: genetics • cornea: storage • cataract 

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