Resumo

MILANES ARMENGOL, Armando Rafael et al. Axenfeld-Rieger syndrome. Presentation of a case. Medisur [online]. 2020, vol.18, n.6, pp. 1233-1240.  Epub 02-Dez-2020. ISSN 1727-897X.

Axenfeld-Rieger syndrome is a very low prevalence disease of genetic origin that is accompanied by variable clinical manifestations with ocular and non-ocular involvement. For these reasons, it was decided to present the case of a 14-years-old patient with a family history (in this case her mother) of this disease, with a history of mild mental retardation, hearing loss and poor vision in both eyes that is accompanied by ocular alterations: malformations at the level of the anterior segment: pupil deformity, perilimbic whitish prominence corresponding to a posterior embryotoxon. He presents other non-ocular signs of involvement: mild craniofacial dysmorphism, hypertelorism, maxillary hypoplasia with flattening of the midface, prominent forehead, wide and flattened nasal bridge, as well as dental anomalies. He suffers from complications inherent to the evolution of the entity, such as secondary glaucoma, for which he was treated with triple therapy with ocular hypotensive agents, pending the response to treatment, and in the case of a torpid evolution, proceed to surgical treatment: trabeculectomy.

Palavras-chave : eye abnormalities; iris diseases; genetic diseases; inborn; case reports.

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