Genomics & Genetics Weekly
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Congenital Glaucoma
Study findings from A.O. Khan et al provide new insights into congenital glaucoma
July 4th, 2008
In this recent study, researchers in Riyadh, Saudi Arabia conducted a study "To report the genetic basis for congenital glaucoma with clinical aniridia in an infant and a milder phenotype in her mother. Prospective case series." "An infant girl with almost complete lack of iris tissue was referred and treated for congenital glaucoma. Although the presumed clinical diagnosis was aniridia (On-line Mendelian Inheritance in Man [OMIM] AN2, # 106210), PAX6 sequencing was normal. Examination of the infant's mother was significant for Axenfeld-Rieger malformation (ARM): prominent Schwabe line, subtle iris hypoplasia, iris stands bridging the angle, increased intraocular...
Source: Genomics & Genetics Weekly (2008-07-04)
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