Principal Investigator: Barbara  Wirostko
Keywords: Glaucoma , Exfoliation syndrome , Family study Department: Ophthalmology
IRB Number: 00081512 Co Investigator: Alan Crandall
Specialty: Ophthalmology, Ophthalmology
Sub Specialties: Glaucoma, Comprehensive Ophthalmology
Recruitment Status: Recruiting

Contact Information

Barbara  Wirostko
barbara.wirostko@hsc.utah.edu
801-587-3020

Simple Summary

To clinically characterize individuals and family members with a diagnosis of pseudoexfoliative syndrome (XFS) or glaucoma (XFG), and perform DNA and RNA analyses (through donated blood samples and, when available, eye lens capsule tissue removed during standard care cataract surgery) to identify genetic associations with this disease.

Inclusion Criteria

All eligible subjects will be > 18 years old at the time of diagnosis of pseudoexfoliative syndrome (XFS) or, pseudoexfoliative glaucoma (XFG), and/or a possibly related collagen elastic condition such as pelvic organ prolapse (POP), atrial fibrillation (Afib), chronic obstructive pulmonary disease (COPD), aortic aneurysm or hernia; or, the patient has a family member or members that have been diagnosed with XFS/XFG; or, the patient has XFS/XFG and is scheduled to have glaucoma surgery, cataract surgery, and or clear lens extraction surgery. Additionally, individuals identified through historic UUHSC EDW records by an ICD-9-CM code diagnosis of XFS/XFG and/or related collagen elastic conditions (see above) for recruitment by the study PI and clinical staff will have their diagnoses verified by chart review prior to contact.

Pseudoexfoliative syndrome (XFS) and or glaucoma (XFG) subjects will be included if they have an established diagnosis of pseudoexfoliation material in their anterior segment made by an ophthalmologist. This diagnosis will be based on dilated slit lamp exam by one of the listed PIs, co PIs and or a referring ophthalmologist. The criteria to determine if a subject can be included in the XFS/XFG group will include: the presence of pseudoexfoliation material on the lens capsule or near the pupil; transillumination defects near the pupil; increased pigmentation or pseudoexfoliation material at the angle, or both; an intraocular pressure of more than 21 mmHg without treatment; typical glaucomatous optic nerve changes; and glaucomatous visual field defects.

Individuals with an established diagnosis of Pelvic Organ Prolapse (POP) will also be included in the study. This diagnosis may be made clinically by an Obstetrics and Gynecological physician and/or be included in their charts as part of a historic medical record.

Individuals with an established diagnosis of Atrial Fibrillation (Afib) will also be included in the study. This diagnosis may be made clinically by a cardiologist and/or be included in their charts as part of a historic medical record.

Individuals with an established diagnosis of sleep apnea will also be included in the study. This diagnosis may be made clinically and/or be included in their charts as part of a historic medical record.

Family members of the affected individual identified through ‘family expansion’ (relatives referred by the affected patient) will then be contacted and offered an eye exam at no cost to them, to evaluate them for the presence of XFS material. If diagnosed with XFS/XFG, these individuals will be asked if they would want to be included in this study; a medical and surgical history obtained as well as blood and or lens capsule tissue (if undergoing cataract surgery) for genetic analysis, and they will be referred to an ophthalmologist and or glaucoma specialist of their choice.

Additionally, we will identify an estimated 500,000 individuals in UPDB with XFS/XFG or associated comorbidities from historic UDOH diagnosis data in UPDB, CMS data linked to UPDB through a CMS data reuse agreement, or UUHSC EDW data linked to UPDB to comprehensively describe the epidemiology and familial clustering of exfoliative disorders (non-contact, historic data analysis only).  See UPDB data access tables in the Study Procedures section for further details.  We will identify approximately 300,000 UUHC unaffected patients with 1 or more eye exams in the UUHC EDW for possible controls for comparison to UUHC patients (no contact). We will identify approximately 350,000 health facilities/APCD unaffected patients with 1 or more eye exams in UPDB as possible controls for comparison to non-UUHC cases in UPDB (no contact).  

To identify familial relationships between study subjects, we may touch on ~3 million family history records in UPDB.

Adults seen at the Lions Club Eye Hospital in Salama, Guatemala for ophthalmology services provided by the Moran Eye Center Outreach Team will be invited to participate in the research.  

Amendment March 2021

We have added a patient cover/consent letter for the Sun Exposure Questionnaire that will be sent to approximately 500 currently enrolled clinic contact-study participants (and new enrollees) from the Moran Eye Center hospital and clinics.  

 

 

Exclusion Criteria

Exclusion criteria will include any subject for whom the PI feels an underlying systemic disease and or condition may compromise the ability to get reliable data. Study participants will be required to be competent in their ability to complete the informed consent.

 

Participant Reimbursement

Undiagnosed family members who do not require an eye exam for their standard care will receive a study eye exam at no charge.