The presence of eye defects in patients with Turner syndrome is irrespective of their karyotype

17Citations
Citations of this article
27Readers
Mendeley users who have this article in their library.
Get full text

Abstract

Objective Published data on eye disorders in patients with Turner syndrome (TS) are limited. We aimed to evaluate the prevalence of eye disorders in patients with TS and assess the association with patient karyotype. Design Cross-sectional, observational study. Patients Eighty-two patients with TS. Measurements We evaluated visual acuity (distance and proximity), intraocular pressure, optic system refraction, orthoposition, frontal eye segment, the eye fundus and colour vision. For eye fundus abnormalities, we conducted ultrasound examinations, visual field evaluations and fluorescein angiography. We statistically tested the association between the prevalence of eye disorders and karyotype. Results 50 (61%) patients had monosomy X; 9 (11%) had mosaicism with a normal 46,XX line; 21 (26%) had structural aberrations; and 2 patients (2%) had other chromosomal abnormalities. Eye disorders were diagnosed in 43 (52%) patients, with 29 (35%) patients having multiple eye defects. Defects related to impaired vision were the most common (44%), followed by strabismus (21%), changes in the posterior eye segment (6%), red-green colour deficiency (5%), changes in the anterior eye segment (5%) and nystagmus (4%). Amblyopia was diagnosed in 13 patients (16%). The most common combinations of ophthalmological defects were hypermetropia and astigmatism with or without other eye problems (12 patients). We found no association between the presence of eye defects and karyotype. Conclusions Detection of eye abnormalities is necessary in all patients directly after being diagnosed with TS to prevent irreversible deterioration of eye function and permanent poor vision. All girls with TS, irrespective of their karyotype, should be referred to an ophthalmologist.

Cite

CITATION STYLE

APA

Wikiera, B., Mulak, M., Koltowska-Haggstrom, M., & Noczynska, A. (2015). The presence of eye defects in patients with Turner syndrome is irrespective of their karyotype. Clinical Endocrinology, 83(6), 842–848. https://doi.org/10.1111/cen.12794

Register to see more suggestions

Mendeley helps you to discover research relevant for your work.

Already have an account?

Save time finding and organizing research with Mendeley

Sign up for free