![]() Eur J Pediatr 169(4):431–435Ĭhauve X, Missirian C, Malzac P, Girardot L, Guys JM, Louis C, Philip N, Voelckel MA (2000) Genetic homogeneity of the urofacial (Ochoa) syndrome confirmed in a new French family. ![]() The pediatricians and urologists should be careful about this symptom to prevent eye damage and quality of life problems.Īydogdu O, Burgu B, Demirel F, Soygur T, Ozcakar ZB, Yalcinkaya F (2010) Tekgul S Ochoa syndrome: a spectrum of urofacial syndrome. Conclusion Nocturnal lagophthalmos is a novel symptom described in patients with urofacial syndrome. Majority of our patients responded to basic therapy. In moderate to severe cases, overnight taping of the lid or the use of a moisture chamber might be necessary. Basic modalities like lubricant drops during the day and ointments at night are usually enough to protect the cornea from exposure keratopathy. Lagophthalmos may lead to keratitis, corneal abrasion, infection, vascularization, and in extreme cases, ocular perforation, endophthalmitis and loss of the eye. We report 15 patients with urofacial syndrome (Ochoa) whom mostly had admitted with major urological symptoms and 12 of the cases had nocturnal lagophthalmos. 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. ![]() Paradoxical inversion of facial musculature when smiling, giving an appearance of crying associated with severe urinary tract dysfunction is typical in these patients. Early diagnosis is crucial for the management and prognosis of urinary problems. The urofacial syndrome is a rare condition that occurs in both genders and characterized by uropathy and facial abnormalities. ![]()
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