ANTERIOR SEGMENT DYSGENESIS IN MOSAIC TURNER SYNDROME

Aims/background-Females with Turner syndrome commonly exhibit ophthalm ological abnormalities, although there is little information in the li terature documenting findings specific to Turner syndrome mosaics. Oph thalmic findings are described in four patients with mosaic Turner syn drome. All had anterior chamber abnormalities and all four had karyoty pic abnormalities with a 45, X cell line. The possible relation betwee n the karyotypic and the phenotypic findings in these patients is disc ussed. Methods-Four girls with mosaic Turner syndrome underwent a full ophthalmological assessment, including examination under anaesthesia where indicated. Results-Three of the four patients presented with con genital glaucoma. Two had the karyotype 45, X/46, X, idic(Y) and one a 45, X/47, XXX karyotype. The remaining child had a Rieger malformatio n of the iris and the karyotype 45, X/46, X, r(X). Conclusions-These f indings suggest that Turner syndrome mosaicism (where there are two ab normal cell lines) is associated with anterior segment dysgenesis. The findings in these four patients are compared with those seen in other mosaic phenotypes and it is postulated that the presence of two or mo re genetically different cell lines may have an adverse effect on ante rior segment development.