Prospective clinical evaluation of inherited retinal diseases - IRD prospective

Radboud Universitair Medisch Centrum0 个研究点目标入组 40 人开始时间: 待定最近更新: 2024年6月11日

适应症

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•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

•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
•7. History or current evidence of ocular disease that, in the opinion of the investigator, may confound assessment of visual function

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