Nocturnal lagophthalmos in children with urofacial syndrome (Ochoa): a novel sign

Eur J Pediatr. 2014 May;173(5):661-5. doi: 10.1007/s00431-013-2172-7. Epub 2013 Nov 19.


The urofacial syndrome is a rare condition that occurs in both genders and characterized by uropathy and facial abnormalities. Early diagnosis is crucial for the management and prognosis of urinary problems. Paradoxical inversion of facial musculature when smiling, giving an appearance of crying associated with severe urinary tract dysfunction is typical in these patients. Although facial signs and symptoms are generally ignored and shadowed by the dominant bladder symptoms, we have recently realized a unique but constant finding in majority of these patients, nocturnal lagophthalmos which is described as inability to close the eyelids during sleep. We report 15 patients with urofacial syndrome (Ochoa) whom mostly had admitted with major urological symptoms and 12 of the cases had nocturnal lagophthalmos. Lagophthalmos may lead to keratitis, corneal abrasion, infection, vascularization, and in extreme cases, ocular perforation, endophthalmitis and loss of the eye. Basic modalities like lubricant drops during the day and ointments at night are usually enough to protect the cornea from exposure keratopathy. In moderate to severe cases, overnight taping of the lid or the use of a moisture chamber might be necessary. Majority of our patients responded to basic therapy. Conclusion Nocturnal lagophthalmos is a novel symptom described in patients with urofacial syndrome. The pediatricians and urologists should be careful about this symptom to prevent eye damage and quality of life problems.

MeSH terms

  • Adolescent
  • Child
  • Child, Preschool
  • Eyelid Diseases / etiology*
  • Eyelid Diseases / genetics
  • Eyelid Diseases / therapy
  • Facies
  • Female
  • Humans
  • Male
  • Urologic Diseases / complications*
  • Urologic Diseases / genetics

Supplementary concepts

  • Urofacial syndrome