This study will investigate congenital or developmental eye abnormalities that affect the
iris, cornea and lens, and are usually accompanied by elevated pressure within the eye.
These disorders can cause vision loss, and the increased eye pressure can lead to glaucoma,
a condition that may also cause loss of eyesight.
Patients with eye anterior chamber eye disease, such as Axenfeld's syndrome, Rieger's
anomaly, Peter's anomaly, iridocorneal endothelial syndrome, megalocornea, ocular
hypertension, and others, are eligible for this study. Participants will have a medical
examination, family history, and comprehensive eye examination. Tests and procedures may
include photographs of the cornea, iris, and the structure through which fluid that normally
circulates behind the cornea drains out of the eye. Some patients may undergo indentation
tonography to measure how easily this fluid drains. In this procedure, the patient lies on
an examination table and both eyes are numbed with eye drops. A small instrument
(tonometer) is placed on the surface of one eye, and with the other eye, the patient looks
at an overhead light. Other tests may include photographs of the back of the eye and
ultrasound imaging of the structures of the eye. A blood sample may be drawn to study the
genetic disorder responsible for the disease. Patients will have follow-up examinations
every 6 months for the duration of the study.
Medical or surgical therapy will be recommended, as appropriate, for patients who develop
elevated eye pressure or vision loss.
This study will concentrate on abnormalities of the anterior chamber with or without
elevated intraocular pressure. The purpose of the study will be to determine if there is a
common pathogenesis shared by these conditions. A natural history study of 40 individuals
with these diseases will utilize clinical measurements and photographs for documentation of
this hypothesis. In addition, surgical specimens, when available, will be studied.
The eye conditions to be studied include Axenfeld's syndrome, Rieger's anomaly, Peter's
anomaly, (all with or without glaucoma), Iridocorneal Endothelial syndrome, Aniridia,
Pigment Dispersion syndrome, Megalocornea and other conditions with clinical abnormalities
of the anterior chamber.
Patients will not be included in the study if they do not fit the morphologic
characteristics of the disease in question or if the patient's general medical condition
or other related factors make it impossible for him or her to continue participation in