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Aims:To describe a Axenfeld-Rieger Syndrome.Presentation of Case: MCL, 7 years old, female, brown, was taken to the ophthalmology outpatient clinic of the Hospital Universit醨io Ant鬾io Pedro, Brazil by her parents, complaining of low visual acuity and malformation of the pupil perceived since birth.Discussion: Axenfeld-Rieger Syndrome is a rare and hereditary disease. Clinically, Axenfeld's anomaly is characterized by the presence of posterior embryotoxon, and there may be adherence of iridian tissue in its periphery. In addition to Rieger's anomaly, posterior embryotoxon is added to iris hypoplasia and iris thickness defects, uveal ectropion and pupillary alterations, such as corectopia. Rieger's syndrome is associated with extraocular changes, of which hypodontia, myicrodontia, maxillary hypoplasia, telecanthus, hypertelorism and hypospadias stand out.Conclusions: Therefore, the importance of early diagnosis, follow-up and adequate treatment becomes evident in order to preserve the visual function of patients and thus avoid an unfavorable evolution.
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Background: Alagille Syndrome is a rare genetic disease characterized by abnormalities of the intrahepatic biliary ducts with cholestasis along with multisystem anomalies. Case characteristics: An 8-year old child with persisting jaundice, severe itching and failure to thrive. Observation: Diagnosis of Alagille syndrome was made on the basis of clinical features, typical facies and liver biopsy showing bile duct paucity. Genetic analysis revealed a novel de novo mutation in the JAG 1 gene. Outcome: The child was started on ursodeoxycholic acid following which the itching improved. Message: A novel de novo mutation in JAG 1 gene is described in this child with Alagille Syndrome.
RESUMO
We report an unusual presentation of a case of Axenfeld-Rieger (A-R) syndrome. A 14-year-old male presented with gradual dimness of vision for 1 year and redness of left eye for 3 days. The patient had megalocornea with Haab's striae in the right eye and posterior embryotoxon in both the eyes. In the left eye, there was a white cord-like structure traversing the anterior chamber with adhesions to iris tissue along its course. On two antiglaucoma medications, his intraocular pressure (IOP) was 22 mm Hg in the right eye and 18 mm Hg in the left eye. Gonioscopy revealed a cord-like structure originating at the level of Schwalbe's line. He underwent right eye trabeculectomy with mitomycin-C. This case highlights a rare presentation of a strange cord-like structure, a rare presentation of A-R syndrome.