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.

Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting

“…Refractive errors are present in about 40% of girls and women with TS, with increased prevalence of both hyperopia and myopia (391). Importantly, strabismus and amblyopia each occur in roughly one-third of females with TS.…”

Peripheral Retinal Neovascularization and Retinal Detachment in Turner Syndrome

“…3,4 Retinal diseases, however, are not frequently mentioned, 1,2 and peripheral RN is rare. Sickle cell retinopathy was a concern in our case, but it is very rare in the Chinese 5 ; the results of blood examination were normal in the current case.…”

The occurrence of ocular diseases in patients with Turner syndrome

“…A collection of 6 publications is the most numerous study of female patients with Turner syndrome [7] which was found by us in literature, and it is a collection of ocular defects of 274 female patients with Turner syndrome. However, none of the works fi led here nor the total conclusions were interested in the relationship between eye symptomatology and karyotype, additionally, and, furthermore, the observations should be considered with care as studies with different numbers of female patients (from 7 do 177), from different authors and at various time periods (1974-1990) were compared.…”

“…Colour vision deficiency is described mainly in the forms of impairments in the area of the red-green spectrum in the literature in Turner syndrome [7,14,24] which reflects the reality that red and green retinal photo pigment is localized on the long arm of the X chromosome. The change of colour vision is described in 8% in men and 0,5% in women in the general population [27].…”

“…Antimongoloid slant of eyes, hypertelorism, epicanthus, ptosis, exophtalmos, keratoconus, dysplasia and coloboma of the iris, blue sclera, congenital glaucoma, congenital cataracts, colour vision deficiency and last but not least refractive errors, strabismus and amblyopia are the ocular defects which occur more often in girls with Turner syndrome than in the general population [2,7,9,12,14,21].…”