Sánchez, LR; Oatts, JT; Duncan, JL; Packman, S; Moore, AT; (2016) Ocular findings in a patient with fucosidosis. American Journal of Ophthalmology Case Reports , 4 pp. 83-86. 10.1016/j.ajoc.2016.10.003.

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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.

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