NL-OMON48655
Recruiting
Not Applicable
Prospective clinical evaluation of inherited retinal diseases - IRD prospective
Overview
- Phase
- Not Applicable
- Intervention
- Not specified
- Conditions
- Inherited retinal disease
- Sponsor
- Radboud Universitair Medisch Centrum
- Enrollment
- 40
- Status
- Recruiting
- Last Updated
- last year
Overview
Brief Summary
No summary available.
Investigators
Eligibility Criteria
Inclusion Criteria
- •Study Participant Inclusion Criteria
- •Participants must meet the following:
- •1\. Clinical diagnosis of STGD and at least two pathogenic or likely pathogenic mutations in trans in the ABCA4 gene of which at least one therapy\-eligible mutation
- •2\. Age \>\= 16 years
- •3\. Willing and able to complete the informed consent
- •4\. Ability to return for all study visits over 36 months;Ocular Inclusion Criteria
- •At least one eye of participants must meet the following:
- •1\. Baseline visual acuity ETDRS letter score of 54 or more (approximate Snellen equivalent 20/80 or better)
- •2\. Stable fixation and ability to perform perimetry reliably
- •3\. Clear ocular media and adequate pupil dilation to permit good quality imaging
Exclusion Criteria
- •Study Participant Exclusion Criteria
- •1\. Mutations in genes that cause autosomal dominant or X\-linked retinal dystrophy, or presence of biallelic mutations in autosomal recessive retinal dystrophy genes other than the gene studied in the patient cohort.;Ocular Exclusion Criteria
- •If both eyes have any of the following, the patient is not eligible:
- •1\. Current vitreous hemorrhage
- •2\. Current or any history of rhegmatogenous retinal detachment
- •3\. Current or any history of (e.g., prior to cataract or refractive surgery) spherical
- •equivalent of the refractive error worse than \-8 Diopters of myopia
- •4\. History of intraocular surgery (e.g., cataract surgery, vitrectomy, penetrating keratoplasty, or LASIK) within the last 3 months
- •5\. Current or any history of retinal vascular occlusion or proliferative diabetic retinopathy
- •6\. Expected to have cataract removal surgery during the study
Outcomes
Primary Outcomes
Not specified
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