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.
confirmed ZSD with deleterious variants in PEX genes identified
confirmed or expected retinal involvement
unable to perform a minimum of one vision test
severe ZSD disease
any age, with appropriate diagnosis
Cohort
Prospective
Not listed
Number of participants with disease progression
Using various tests of vision measured annually, a description of disease progression will be defined in each participant.
Number of participants with common patterns of retinal degeneration observed
Vision test results from participants will be reviewed together to describe common patterns of retinal degeneration observed.
Rate of progression of retinal degeneration
Statistical analysis using the data from Outcome 1, will be used to generate rate of progression per year over 5 years in each individual.
Correlation of rate retinal degeneration to age and overall ZSD disease severity
Statistical analysis using the data from Outcome 1, will be used to correlate rate of progression per year over 5 years to age and overall ZSD disease severity in each individual.
rate of progression of retinal degeneration
Statistical analysis using the data from Outcome 1, will be used to define variance between participants in rate of progression of retinal degeneration.
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McGill University Health Centre/Research Institute of the McGill University Health Centre
Lead sponsor
Canadian Institutes of Health Research (CIHR)
Collaborator
