4A syndrome: ocular surface investigation in an Italian young patient View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2014-12

AUTHORS

Pasquale Aragona, Laura Rania, Anna Maria Roszkowska, Domenico Puzzolo, Antonio Micali, Antonina Pisani, Giuseppina Salzano, Maria Francesca Messina

ABSTRACT

BACKGROUND: Allgrove's 4A syndrome determines ocular surface changes. This is the first report providing an up-to-dated analysis of the ocular surface in an affected patient. CASE PRESENTATION: An 18-years-old male Caucasian patient, with a complex progressive gait disorder and adrenal insufficiency, was referred for ophthalmic evaluation, as part of the clinical assessment. He underwent the following tests: best corrected visual acuity, tear osmolarity, tear film break-up time (BUT), corneal fluorescein staining, Schirmer's I test, lid margin assessment, corneal sensitivity, in vivo corneal confocal microscopy, conjunctival impression cytology, tonometry and fundus exam. A dry eye condition was documented by the Schirmer's I test of 0 mm/5' in both eyes, accompanied by tear hyperosmolarity, mild meibomian gland dysfunction, reduced BUT, mucus filaments in the tear film and conjunctival epithelium metaplasic changes. The corneal confocal microscopy showed the presence of activated keratocytes, while the nerve pattern was normal. CONCLUSIONS: The dry eye in this patient appears to be due to tear aqueous deficiency and can be considered as part of the 4A syndrome. The decreased tear production, resulting from a deterioration of the autonomic innervation of the lacrimal glands rather than an impaired corneal innervation, can be considered as part of the systemic autonomic dysfunction present in this disease. More... »

PAGES

155

Identifiers

URI

http://scigraph.springernature.com/pub.10.1186/1471-2415-14-155

DOI

http://dx.doi.org/10.1186/1471-2415-14-155

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1018973645

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/25488127


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