Dry eye affects 5-30% of the population over the age of 50 years and risk factors include female sex, age, sex hormone alterations, refractive surgery, particular medications and infections and a variety of specific clinical diseases such as graft vs. host disease. We have enrolled over 50 participants in Protocol 07-EI-0145, """"""""Ocular impact of X chromosome karyotype and sex hormones in Turner Syndrome and Premature Ovarian Failure."""""""" Premature ovarian failure (POF) is known to be associated with an increased risk of ocular surface disease (dry eye), likely due to the reduction of both estrogens and androgens seen in this condition. From preliminary data, we suspect that women with Turner syndrome (TS), (45, XO) a genetic abnormality that affects sex hormone levels, are also at increased risk of ocular surface disease. Comparing POF and TS women may allow us to distinguish different mechanisms for ocular surface disease, due to the different etiologies of hormonal (estrogen and androgen) alterations posed by POF and TS. Premature ovarian failure (POF), defined as cessation of regular menses in women younger than 40 years of age, affects 0.3-2% of women. In addition to amenorrhea, POF patients also exhibit hypoandrogenemia, hypoestrogenemia, and elevated gonadotropins. Women with POF experience the same symptoms of estrogen deficiency as do post-menopausal women: namely, hot flashes, night sweats, fatigue, and mood swings. Although chemotherapy, radiation, and chromosomal abnormalities can cause POF, an autoimmune etiology is well recognized. Women with autoimmune POF are at increased risk of potentially fatal autoimmune adrenal insufficiency. In a previous study, we demonstrated that POF is associated with an increased prevalence of ocular surface disease, symptoms of dry eye and evidence of ocular surface damage. To determine whether TS is associated with an increased prevalence of keratoconjunctivitis sicca (KCS), this study will compare ocular surface parameters in women with TS, premature ovarian failure (POF), and age-matched controls.
