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.
In children, corneal and scleral IOP are correlated significantly when measured by pneumatonometry. Measurements obtained from the inferotemporal sclera are better predictors of corneal IOP than those obtained from inferonasal sclera. Pneumatonometry on the inferotemporal sclera may be an alternative method to estimate IOP for pediatric patients from whom corneal IOP measurement is difficult to obtain.
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