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Corneal ulcer in a patient with cross-linked Opitz G/BBB syndrome

Poster Details

First Author: N.Marques PORTUGAL

Co Author(s):    J. Cardoso   A. Melo   A. Miranda   D. Nelvia   N. Campos  

Abstract Details


To elucidate the importance of signs in the accurate diagnosis of corneal ulcers and the follow-up of these patients.


garcia de orta hospital


Clinical case, elaborated through the review of a clinical file, ophthalmological examination and analysis of ancillary tests.


10 months-old boy, born with a multilple congenital anomaly disorder compatible to X-linked Opitz G/BBB Syndrome and characterized by craniofacial anomalies (ocular hypertelorism, proeminent forehead, micrognaty, broad nasal bridge, anteverted nares, widow"s peak, temporal-parietal hair rarefaction, low and obliquos ears implantation, catfish mouth, cerebellum and protuberance hipoplasy, occipitocervical meningocel, ventriculomegaly), cleft palate, genitourinary abnormalities (hypospadias, left hydronephrosis with homolateral ureter dilatation). The ecocardiogram showed a complete auriculoventricular septum , with aortic estenosis and pulmonary hipertension. The patient was referred to Ophthalmology to screen for ocular diseases. At clinical examination, the patient followed objects and light with the eyes and showed normal pupilary reflexes. The hypertelorism and exophthalmy were evident. Both corneas were transparent with the right one with a superficial epitelial ulcer in temporoinferior quadrant. The anterior chamber of both eyes were formed and deep. Fundoscopy of RE and LE were normal. The patient was treated with prophylatic topic antibiotics and lubrificants and afterwards, with amniotic membrane transplantation without improvement or ulcer reduction. For this reason, it was performed a marginal and temporary tarsorraphy on the temporal side of the RE using plastic strips and a 6-silk suture through the eyelid border and the area a few millimeters from it.


Multiple congenital anomaly disorders are associated frequently with craniofacial anomalies and orbit abnormalities, that can lead to exophthalmus and a more corneal exposure. This is associated frequently with dry eye and corneal ulcers, which can lead to complications such as keratitis, corneal scarring. Therefore this children should be frequently followed by Ophthalmology.

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