Fabry Disease – Ophthalmologic Findings

Common ophthalmologic findings in Fabry disease include:

Whorled corneal opacities

Lenticular opacities

Vascular lesions of the conjunctivae and retina

Corneal opacities, beginning with a diffuse haziness and progressing to a characteristic "whorled" or "spoke-like" pattern, are found almost universally among classically affected hemizygotes and in a high proportion of heterozygous females (estimated to be approximately 70% ^[1]). This finding can be visualized through slit lamp microscopy. Corneal opacities do not impair vision.^[2]

Distinctive Corneal Opacity in Fabry Disease

Two types of lens opacities have been noted in Fabry patients: cream-colored anterior capsular deposits in the lens (sometimes distributed like a propeller), and whitish, granular spoke-like deposits on the posterior lens (referred to as Fabry cataracts). Fabry cataracts are more commonly observed than capsular deposits; they can be visualized by retroillumination.^[2]

Conjunctival and retinal vascular lesions resulting from the generalized disease process are common.^[1]

Lesions may appear to be sausage-like, with markedly dilated vessels. The presence of several lesions of this type, which do not affect vision, may be pathognomonic for Fabry disease.^[1]

References

1. Desnick RJ, Ioannou YA, Eng CM. Alpha-galactosidase A deficiency: Fabry disease. In: The Metabolic and Molecular Bases of Inherited Disease. New York, NY: McGraw Hill, 2001;3733-3774.

2. Sher NA, Letson RD, Desnick RJ. The ocular manifestations in Fabry's disease. Arch Ophthalmol. 1979;97:671-676