Ophthalmic features of Turner's syndrome

Abstract

Turner's syndrome is one of the most common of all chromosomal abnormalities and is associated with significant ophthalmic morbidity. Turner's 1938 account included two patients with strabismus, and hitherto the condition has generated more interest among orthoptists than ophthalmologists. This systematic review of the literature seeks to redress the balance. Based on the pooled data of 274 patients with Turner's syndrome, it is the most complete evaluation so far of the prevalence and severity of ophthalmic problems in this population. This includes both a systematic review of the ophthalmic literature (via Medline) and the much larger body of work available in the orthoptic literature. Finally, we consider recent progress that enables the ophthalmologist to progress from the simple recognition of a phenotype to the correlation of genotypic variations with embryogenesis and consequent features of that phenotype.