Aniridia associated with ptosis in three generations of the same family

Abstract

Aniridia is a spectrum of abnormalities of the iris anatomy, which range from a total absence of the iris to a mild stromal hypoplasia with normal pupil. Aniridia associated with ptosis in three generations of the same family is described. The cases fit the autosomal dominant familial aniridia (AN1) type, a genetic form of congenital aniridia characterised by isolated ocular defects.

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.…”

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. [17][18][19][20][21][22] Because many cases of aniridia are inherited in an autosomal dominant manner [17][18][19]21 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. 19 However, of the 493 entries reported in the human PAX6 allelic variant database mutation website, 12 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.…”

“…In this report, there are five generations of affected members; however, there is considerable variation in the severity of the corneal changes. There are only two other reports in the literature that describe a similar constellation of ophthalmological signs to that found in this family; however, our cases are differentiated by the absence of microcornea and glaucoma. None of the earlier reports described any systemic features associated with their pedigrees, and genetic testing was not undertaken.…”

“…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 .…”