Ocular findings in a patient with fucosidosis.
Am J Ophthalmol Case Rep
; 4: 83-86, 2016 Dec.
Article
en En
| MEDLINE
| ID: mdl-29503934
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.
Texto completo:
1
Banco de datos:
MEDLINE
Tipo de estudio:
Diagnostic_studies
Idioma:
En
Año:
2016
Tipo del documento:
Article