F

General: Lipoid storage disorder; X-linked recessive inheritance; lack of α-galactosidase A enzyme.

Ocular: Swelling of eyelids; varicosities of palpebral and bulbar conjunctiva; corneal dystrophy; corneal opacities; increased tortuosity of retinal vessels and aneurismal dilatations; cornea verticillata; cataract; central retinal artery occlusion; internuclear paralysis of extraocular muscles; papilledema; tortuosity and caliber irregularity of conjunctival vessels; characteristic cream-colored whorllike opacity in deep part of corneal epithelium; posterior cataract; occasional edema of optic disk and reitina.

Clinical: Angiokeratoma of the skin with small, grouped papular lesions mainly over the scrotum, thighs, buttocks, sacral area, umbilical area, and lips; elevated blood pressure; disturbance in sweat secretion; pain in arms and legs; enlarged heart; albuminuria.

Andersen MV, et al. Central retinal artery occlusion in a patient with Fabry's disease documented by scanning laser ophthalmoscopy. Acta Ophthalmol 1994; 72:635-638.

Clarke JTR, et al. Enzyme replacement therapy by renal allotranstation in Fabry's disease. N Engl J Med 1972; 287:1215-l218.

Ho PC, Feman SS. Internuclear ophthalmoplegia in Fabry's disease. Ann Ophthalmol 1981; 13:949-951.

Fraunfelder FT, Roy FH, eds. Current Ocular Therapy. 4th ed. Philadelphia: WB Saunders, 2000:180.

Weingeist TA, Blodi FC. Fabry's disease: ocular findings in a female carrier. Arch Ophthalmol 1971; 85:169.