Ocular findings in a patient with fucosidosis

Abstract

Purpose: To describe the ocular findings in a patient with fucosidosis, a rare inborn lysosomal storage disease.

Observations: A 14 year-old female presented with angiokeratomas corporis diffusum, coarse facial features, poor verbal skills, hearing impairment and mild developmental delay. A lysosomal storage enzyme screen confirmed absent activity of α-l-fucosidase consistent with a diagnosis of fucosidosis. Her eye exam was remarkable for telangiectatic vessels in the inferior conjunctiva and mild corneal stromal haze bilaterally. Spectral domain-optical coherence tomography scans of the macula and a full-field electroretinogram were normal.

Conclusions and importance: We describe the findings in a 14 year-old patient with fucosidosis and review the systemic and ocular manifestations of this rare lysosomal storage disease.

Keywords: Electroretinography; Fucosidosis; Ocular phenotype.

Fig. 1

Skin findings in fucosidosis. Angiokeratomas corporis diffusum in palms (A) and abdomen (B).

Fig. 2

Slit lamp findings in fucosidosis. Anterior segment with normal iris and clear lens (A); corneal stromal haze (B); corneal stromal haze magnification (C); tortuous conjunctival vessels along with microaneurysms of conjunctival vessels (D, E).

Fig. 3

Spectral domain–optical coherence tomography images of each macula showing normal inner and outer retinal layers and normal retinal pigment epithelium of right eye (A) and left eye (B). Color fundus photography showed healthy optic discs, normal retinal vasculature and normal macular appearance. The slightly abnormal-appearing foveal light reflex bilaterally is a photography flash artifact (C).