title: The ocular manifestations in Fabry's disease.
abstract: We present the ocular manifestations in a series of 37 hemizygous male and 25 heterozygous female patients with Fabry's disease. The ocular findings typically do not impair vision, but are unique and diagnostic. Whorl-like corneal deposits were seen in almost all patients and were more severe in the heterozygotes. The lens showed cream-colored anterior capsular deposits, sometimes in striking "propeller" distribution, in one third of the hemizygotes, and in none of the heterozygotes. A faint but unique posterior capsular opacity with a branching radial pattern was seen in 37% of the hemizygotes and 14% of the heterozygotes. Conjunctival vessel aneurysmal dilations and retinal vessel tortuosity were both more frequent and severe in the hemizygotes. Severe visual loss occurred in two hemizygotes as a result of unilateral total central artery occlusions.
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D003315:Cornea / Q000473:pathology; D003316:Corneal Diseases / Q000209:etiology / Q000473:pathology; D005123:Eye / Q000473:pathology*; D005128:Eye Diseases / Q000209:etiology*; D000795:Fabry Disease / Q000150:complications*; D005260:Female; D006801:Humans; D007223:Infant; D007905:Lens Diseases / Q000209:etiology / Q000473:pathology; D007908:Lens, Crystalline / Q000473:pathology; D008297:Male; D008875:Middle Aged; D012160:Retina / Q000473:pathology; D012164:Retinal Diseases / Q000209:etiology / Q000473:pathology