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April 1979

The Ocular Manifestations in Fabry's Disease

Author Affiliations

From the Department of Ophthalmology, University of Minnesota Medical School, Minneapolis (Drs Sher and Letson), and the Department of Medical Genetics, Mt Sinai School of Medicine, New York (Dr Desnick).

Arch Ophthalmol. 1979;97(4):671-676. doi:10.1001/archopht.1979.01020010327008

• 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.