Whole exome sequence analysis of Peters anomaly
نویسندگان
چکیده
منابع مشابه
Peters’ Anomaly
While conducting medical aid in Mozambique, a 41 year old African male presented to our eye clinic complaining of visual impairment. The male was found to have Peters' anomaly type 2, a rare congenital ocular malformation leading to sensory amblyopia and glaucoma.
متن کاملImprovement of Corneal Opacity in Peters' Anomaly
A 5-week-old male presented with Peters' anomaly. Corneal transplantation was deferred and the patient underwent an optical sector iridectomy in his better eye with central leukoma and iridocorneal adhesions. At six months following surgery, there was a decrease in corneal opacity. The most recent ophthalmic examination was performed at age 42 months. The cornea was considerably clearer, and th...
متن کاملClassic Galactosemia Presenting with Unilateral Peters Anomaly
Objective: To report a case of classic galactosemia that presented with a rare ocular finding, Peters’ anomaly. Clinical Presentation and Intervention: A neonate, born to firstdegree healthy cousins, presented with persistent vomiting, failure to thrive, lethargy, and jaundice. Corneal opacity was noticed in the left eye. Hydration and empiric antibiotics were started after collection of the re...
متن کاملClassic Galactosemia Presenting with Unilateral Peters Anomaly
Objective: To report a case of classic galactosemia that presented with a rare ocular finding, Peters’ anomaly. Clinical Presentation and Intervention: A neonate, born to firstdegree healthy cousins, presented with persistent vomiting, failure to thrive, lethargy, and jaundice. Corneal opacity was noticed in the left eye. Hydration and empiric antibiotics were started after collection of the re...
متن کاملClassic galactosemia presenting with unilateral Peters' anomaly.
OBJECTIVE To report a case of classic galactosemia that presented with a rare ocular finding, Peters' anomaly. CLINICAL PRESENTATION AND INTERVENTION A neonate, born to first-degree healthy cousins, presented with persistent vomiting, failure to thrive, lethargy, and jaundice. Corneal opacity was noticed in the left eye. Hydration and empiric antibiotics were started after collection of the r...
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ژورنال
عنوان ژورنال: Human Genetics
سال: 2014
ISSN: 0340-6717,1432-1203
DOI: 10.1007/s00439-014-1481-x