Fabry disease: ocular manifestations.
Fabry disease involves the different eye structures with variable frequencies. Typical alterations are the vascular lesions of the conjunctiva, the whirl-like opacities of the cornea, the wedge-shaped anterior opacities and the branching spokes of the lens, as well as the vascular lesions of the retina. Histopathologic examination correlates well with the observed symptoms. Several drugs may induce whirl-like opacities. The importance of the slit-lamp examination in Fabry disease has been further stressed by the discovery of angiokeratoma corporis diffusum in fucosidosis.
D000328:Adult; D000634:Aminoquinolines / Q000009:adverse effects; D000818:Animals; D002386:Cataract / Q000209:etiology; D002648:Child; D003228:Conjunctiva; D003316:Corneal Diseases / Q000209:etiology; D003318:Corneal Opacity / Q000139:chemically induced; D003937:Diagnosis, Differential; D005128:Eye Diseases / Q000209:etiology; D005132:Eye Manifestations; D005133:Eye Movements; D000795:Fabry Disease / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D005260:Female; D005654:Fundus Oculi; D006801:Humans; D007213:Indomethacin / Q000009:adverse effects; D008297:Male; D010640:Phenothiazines / Q000009:adverse effects; D012744:Sex Ratio; D014652:Vascular Diseases / Q000209:etiology; D014792:Visual Acuity
D000634:Aminoquinolines; D010640:Phenothiazines; D007213:Indomethacin