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Ocular findings in a patient with fucosidosis

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. Green open access

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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.

Type: Article
Title: Ocular findings in a patient with fucosidosis
Location: United States
Open access status: An open access version is available from UCL Discovery
DOI: 10.1016/j.ajoc.2016.10.003
Publisher version: https://doi.org/10.1016/j.ajoc.2016.10.003
Language: English
Additional information: This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
Keywords: Electroretinography, Fucosidosis, Ocular phenotype
UCL classification: UCL
UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Ophthalmology
URI: https://discovery.ucl.ac.uk/id/eprint/10086020
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