Aniridia and congenital ptosis

PAX6 mutation in association with ptosis, cataract, iris hypoplasia, corneal opacification and diabetes: a new variant of familial aniridia?

“…There have been few reports of congenital ptosis occurring in association with aniridia . Because many cases of aniridia are inherited in an autosomal dominant manner and are associated with mutations of PAX6 , it has been proposed that congenital ptosis associated with aniridia represents a pleiotropic and variable effect of mutation of the PAX6 gene .…”

“…There have been few reports of congenital ptosis occurring in association with aniridia . Because many cases of aniridia are inherited in an autosomal dominant manner and are associated with mutations of PAX6 , it has been proposed that congenital ptosis associated with aniridia represents a pleiotropic and variable effect of mutation of the PAX6 gene . However, of the 493 entries reported in the human PAX6 allelic variant database mutation website, most of whom have aniridia, only 11 (2.2%) are reported to have ptosis as an additional feature, suggesting that ptosis is a relatively rare complication of PAX6 mutations that cause aniridia.…”

WAGR(O?) syndrome and congenital ptosis caused by an unbalanced t(11;15)(p13;p11.2)dn demonstrating a 7 megabase deletion by FISH

“…Since many cases of aniridia are inherited in an autosomal dominant manner [Cohen et al, 1988] and are associated with mutations of PAX6, it has been proposed that congenital ptosis associated with aniridia is a pleiotropic manifestation of altered PAX6 function [Malandrini et al, 2001;Shields and Reed, 1975;Wammanda and Idris, 2005]. However, of the 269 aniridia entries reported on the Human t(11;15) AND WAGR reported to have ptosis as an additional feature suggesting that ptosis is a relatively rare complication of PAX6 mutations that cause aniridia.…”