부산대학교 도서관

PurposeTo describe the ocular findings in a patient with fucosidosis, a rare inborn lysosomal storage disease.ObservationsA 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 importanceWe describe the findings in a 14 year-old patient with fucosidosis and review the systemic and ocular manifestations of this rare lysosomal storage disease.