Endocrine Abstracts

Turner syndrome (TS) is associated with more frequent ophthalmic morbidity.

The goal: To investigate the prevalence and severity of ophthalmic problems in patients with TS diagnosis established on a detailed karyotype analysis.

Patients and method: 73 girls with TS aged 2–30 (mean 14.34±6.39) were involved in the study. 45,X monosomy was found in 57.8% of them, different mosaic pattern in 33.8% and structural aberration in 8.4%. Full ophthalmic examination was performed (visual acuity, refraction, ocular tension, colour vision and eye fundus examination with a lens of Volk).

Results: An organ of sight was changed in 37 (50.7%) of the patients. 31 (42.5%) of the patients suffered from an inappropriate visual acuity: 10 from myopia (2 with astigmatism), 21 from hypermetropia (12 with astigmatism). Amblyopia was present in 11 girls. Convergent squint was found in 15 (20.55%). In 2 of them an epicanthus coexisted, in 1 a nystagmus. Another patient suffered from congenital bilateral ectropion, which led to chronic inflammation and persistent lacrimation. A divergent squint was present in one girl. 4 patients suffered from a defective colour vision. An ocular hypertension and increased corneal thickness on pachymetry was also found in one of them. In 2 patient anterior segment defect occurred. It was PEX in 1 and malformation of the iris in 1. Eye fundus abnormalities were present in 5 girls. Tortuous vessels on the ocular fundi were found in 1 patient, a choroidal nevus in 2 and drusen of the optic nerve disc in another one. On ophthalmoscopy optic nerve discs oedema was present in 1 patient.

There was no correlation between the ocular findings and the pattern of karyotype.

Conclusion: Our study confirms that ocular problems occur in TS frequently. A routine ophthalmologic examination is recommended early in TS to diagnose and treat confirmed abnormalities.