Longitudinal Prospective Natural History Study of Retinopathy in Zellweger Spectrum Disorder
McGill University Health Centre/Research Institute of the McGill University Health Centre
Summary
The goal of this observational study is to define the course of the retinal degeneration in a ZSD patient cohort. The objective of this study is to gather information so the investigators can: 1. define the course of the retinal degeneration in a ZSD patient cohort with retinal degeneration 2. define what tests best monitor the progression of the retinal degeneration 3. generate prognostic information about vision loss in ZSD. At each yearly visit, the participants will answer a functional vision questionnaire, have a physical evaluation, blood test, and participate in a variety of vision tests. The investigators will also collect pertinent medical history. Participants will travel to study site. The study will provide financial support for board and travel.
Description
Participants/guardians will have a 1-hour virtual interview before the first visit to review the tests and determine which tests the participant is able to perform. Below is a list of the vision tests used for this study: Prior to each visit, the participant will complete the PedEyeQ or VFQ-25 questionnaire about functional vision. At each clinic visit : * Refraction and glasses test: this is a general vision test, as commonly conducted by an optometrist, before and after pupil dilation * Best corrected visual acuity: the participant's vision will be tested using cards or a chart. * Contra…
Eligibility
- Age range
- Not specified
- Sex
- All
- Healthy volunteers
- No
Inclusion Criteria: * confirmed ZSD with deleterious variants in PEX genes identified * confirmed or expected retinal involvement Exclusion Criteria: * unable to perform a minimum of one vision test * severe ZSD disease
Locations (3)
- University of Rochester Medical Center/Flaum Eye InstituteRochester, New York
- Eye Institute of AlbertaEdmonton, Alberta
- Research Institute-McGill University Health CenterMontreal, Quebec