Dry Eye in Women With Turner Syndrome and Women With Premature Ovarian Failure

Women with premature ovarian failure (POF) are at risk for dry eye. In addition, some women with Turner syndrome (TS) report dry eye symptoms. This study will determine how many women with TS have dry eye, compared to women with POF and women without these conditions.

Females 16 years of age and older with TS, POF, or neither of these conditions may be eligible for this study. Participants undergo the following tests and procedures:

• Medical history: Subjects are asked about their current and previous medical conditions and treatments they have had in the past. They complete forms with information about how their eyes feel and if dry eye has bothered them.
• Assessment of tears and eye surface: The amount of tears the eyes can produce is measured by placing a small piece of sterile paper in the corner of the eye for 5 minutes. Orange and green dyes are also placed in the eyes to determine the health of the surface of the eye.
• Eye examination: Visual acuity (the ability to see the vision chart) and eye pressure (fluid pressure in the eye) are measured. Pupils and eye movements are examined. The structures inside the eye are examined through a microscope. The lens and retina (back of the eye) are examined after drops have been placed in the eyes to widen the pupils. The retina is examined with an ophthalmoscope (instrument with a strong light and magnifying lens).
• Blood drawing: Blood samples are drawn through a needle in the arm to test for the level of sex hormones.
• Conjunctival swab and tear fluid collection: A small sample of tears may be collected in a small tube to study their consistency and makeup. The top layer of cells from the surface of one eye may be removed with a swab or filter paper for study.

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 Turners syndrome (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.

• Turner Syndrome
• Ovarian Failure, Premature
• Sex Chromosome Aberrations
• Menopause
• Perimenopause

• Smith JA, Vitale S, Reed GF, Grieshaber SA, Goodman LA, Vanderhoof VH, Calis KA, Nelson LM. Dry eye signs and symptoms in women with premature ovarian failure. Arch Ophthalmol. 2004 Feb;122(2):151-6.
• Schaumberg DA, Buring JE, Sullivan DA, Dana MR. Hormone replacement therapy and dry eye syndrome. JAMA. 2001 Nov 7;286(17):2114-9.
• Coulam CB, Adamson SC, Annegers JF. Incidence of premature ovarian failure. Obstet Gynecol. 1986 Apr;67(4):604-6.

• INCLUSION CRITERIA:

  1. Ability to understand and give informed consent.
  2. Meet the diagnostic criteria for TS (45, X0) or premature ovarian failure OR age matched control for study participant with TS or POF.
  3. For non Turner syndrome subjects only - Negative pregnancy test or post menopausal status for greater than or equal to 1 year.
  4. Karyotype of XO for TS subjects or XX for POF and age matched control subjects.

EXCLUSION CRITERIA:

1. Persons less than 16 years old.
2. Persons with ophthalmic diseases associated with ocular surface disease.
3. Hyperprolactinemia.
4. Cushing's syndrome.
5. Other endocrine disorders which impact sex steroid hormones.
6. AIDS
7. Pregnancy or lactation.
8. For age matched control population ONLY- oral contraceptives or menopausal hormone therapy or any medications which alter sex hormone levels in the blood.