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.
| 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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