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J. Austin Clayton, S. Vitale; Ocular Surface Disease Signs, Symptoms and Quality of Life Characteristics in Turner Syndrome. Invest. Ophthalmol. Vis. Sci. 2010;51(13):2367.
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© ARVO (1962-2015); The Authors (2016-present)
To determine whether Turner syndrome, TS, (45, XO) a genetic abnormality that affects sex hormone levels, is associated with an increased risk of ocular surface disease signs and symptoms.
Standardized assessments of the ocular surface including Oxford grading of vital dye staining, tear production (Schirmer tests with and without anesthesia), tear breakup time (TBUT), and Meibomian gland dysfunction (MGD) were performed with an eye exam. The Ocular Surface Disease Index (OSDI) © was used to quantify the impact of dry eye on quality of life (QOL). The impact of dry eye symptoms on activities of daily living and visual functioning was determined using the 25-item NEI Visual Function Questionnaire (NEI-VFQ 25).
55 women with Turner syndrome (TS) were identified.Worse eye visual acuity ranged from 20/16 to 20/400; 3/55 pts had abnormal color vision. In the TS group, the mean Oxford score was 4.4, mean Schirmer without anesthesia was 14.5 secs and the TBUT was reduced at 5.5 secs. Over 1/2 pts with TS had abnormal TBUT; 38.5% had severe ocular surface staining; and 70.4% had MGD. The signs, symptoms and quality of life measures are summarized in the attached table which also shows the results of the same standardized evaluations performed at the same center for 65 women with Premature Ovarian Failure (POF) and for 36 controls age matched to POF women. Compared to the POF group, in the TS group, the total Oxford score was greater and the TBUT was lower. The symptom and QOL measures were similar to the abnormal NEI-VFQ and OSDI scores in women with POF. The proportion of women with TS with shortened TBUT (51.9% TS vs. 35% POF), severe ocular surface staining (38.5% vs. 29%) and MGD (70.4% vs. 40%) exceeded that of women with POF.
There is a sizeable prevalence of abnormal ocular surface parameters in women with Turner syndrome manifest primarily as abnormally increased ocular surface staining, shortened TBUT, and meibomian gland plugging accompanied by dry eye symptoms and measurable impact on vision targeted QOL to an extent comparable to or exceeding that seen in women with POF.
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