Search results for "Aniridia"
showing 2 items of 2 documents
Lens implant selection with absence of capsular support.
2001
If contact lens or spectacle correction is not viable, little debate exists that the secondary placement of an intra-ocular lens (IOL) is the method of choice in the absence of capsular support. The choice of IOL mainly depends on the preoperative status of the eye (eg, aphakia in children) and the selected location for the implant. Theoretically, there are several IOL implantation approaches in cases without capsular support: an angle-supported anterior chamber (AC) IOL, an iris-fixated ACIOL, an iris-sutured or iris-fixated posterior chamber (PC) IOL and a transsclerally sutured PCIOL. No consensus exists, however, on the indications as well as on the relative safety and efficacy of these…
Ten novel mutations found in Aniridia.
1998
Aniridia (AN) is a sight-threatening congenital ocular disorder characterized by iris hypoplasia, corneal pannus, foveal and optic nerve hypoplasia, cataract formation, and glaucoma. In two-thirds of the patients, AN is inherited in an autosomal dominant fashion with almost complete penetrance but variable expression. The remaining cases are sporadic. Aniridia has been shown to be associated with mutations in the PAX6 gene, located on chromosome 11p13, telomeric to the Wilms' tumor predisposition gene (WT1). This paper describes 14 mutations in the PAX6 gene in patients with AN. Among these 14 mutations, 10 have been unpublished until now. They result most probably in haploinsufficiency and…