title: 4A syndrome: ocular surface investigation in an Italian young patient.
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.
  
  
  METHODS
  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.
authors.affiliation: Department of Experimental Medical-Surgical Sciences, Ocular Surface Diseases Unit, University of Messina, Via Consolare Valeria 1, I-98125 Messina, Italy. paragona@unime.it.
authors.forename: Pasquale
authors.initials: P
authors.lastname: Aragona
authors.forename: Laura
authors.initials: L
authors.lastname: Rania
authors.forename: Anna Maria
authors.initials: AM
authors.lastname: Roszkowska
authors.forename: Domenico
authors.initials: D
authors.lastname: Puzzolo
authors.forename: Antonio
authors.initials: A
authors.lastname: Micali
authors.forename: Antonina
authors.initials: A
authors.lastname: Pisani
authors.forename: Giuseppina
authors.initials: G
authors.lastname: Salzano
authors.forename: Maria Francesca
authors.initials: MF
authors.lastname: Messina
mesh_terms: D000293:Adolescent; D000309:Adrenal Insufficiency / Q000175:diagnosis*; D003228:Conjunctiva / Q000473:pathology*; D003241:Consanguinity; D060527:Corneal Keratocytes / Q000473:pathology*; D015352:Dry Eye Syndromes / Q000175:diagnosis*; D019573:Epithelium, Corneal / Q000473:pathology*; D004931:Esophageal Achalasia / Q000175:diagnosis*; D006801:Humans; D007558:Italy; D008297:Male; D018613:Microscopy, Confocal; D009994:Osmolar Concentration; D013666:Tears / Q000737:chemistry*; D014792:Visual Acuity