Ocular findings in a patient with fucosidosis

Lucía Rivera Sánchez; Julius T Oatts; Jacque L Duncan; Seymour Packman; Anthony T Moore

doi:10.1016/j.ajoc.2016.10.003

Ocular findings in a patient with fucosidosis

Am J Ophthalmol Case Rep. 2016 Oct 13:4:83-86. doi: 10.1016/j.ajoc.2016.10.003. eCollection 2016 Dec.

Authors

Lucía Rivera Sánchez¹, Julius T Oatts¹, Jacque L Duncan¹, Seymour Packman², Anthony T Moore^{1

3

4}

Affiliations

¹ Department of Ophthalmology, University of California, San Francisco, San Francisco, CA, USA.
² Division of Medical Genetics, Department of Pediatrics, University of California, San Francisco, San Francisco, CA, USA.
³ Moorfields Eye Hospital, London, United Kingdom.
⁴ UCL Institute of Ophthalmology, London, United Kingdom.

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.

Keywords: Electroretinography; Fucosidosis; Ocular phenotype.

Publication types

Case Reports