Inherited retinal diseases, Stargardt disease, retinal dystrophy Erfelijke netvlies aandoeningen, de ziekte van Stargardt, netvliesdystrofie
Conditions
Interventions
None listed
Sponsors
Radboud University Medical Center
Eligibility
Inclusion criteria
Inclusion criteria: Cohort-specific inclusion criteria: - Clinical diagnosis of STGD and at least two pathogenic or likely pathogenic, therapy-eligible mutations in trans in the ABCA4 gene Participants must meet the following: - Age =/> 12 years - Willing and able to complete the informed consent - Ability to return for all study visits over 36 months Both eyes of participants must meet the following: - Baseline visual acuity ETDRS letter score of 54 or more (approximate Snellen equivalent 20/80 or better) - Stable fixation and ability to perform perimetry reliably - Clear ocular media and adequate pupil dilation to permit good quality imaging
Exclusion criteria
Exclusion criteria: - 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 If either eye has any of the following, the patient is not eligible: - Current vitreous hemorrhage - Current or any history of rhegmatogenous retinal detachment - 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 - History of intraocular surgery (e.g., cataract surgery, vitrectomy, penetrating keratoplasty, or LASIK) within the last 3 months - Current or any history of retinal vascular occlusion or proliferative diabetic retinopathy - Expected to have cataract removal surgery during the study - History or current evidence of ocular disease that, in the opinion of the investigator, may confound assessment of visual function
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Best corrected visual acuity, quantitative fundus autofluorescence intensity data, mean retinal sensitivity as measured by fundus-guided microperimetry, ellipsoid zone area as measured by SD-OCT, visual field sensitivity measured by static perimetry, macular and retinal function using multifocal and full-field ERG amplitudes and implicit time, rod and cone full-field stimulus thresholds. | — |
Secondary
| Measure | Time frame |
|---|---|
| Quality of life and patient reported outcomes | — |
Contacts
Public ContactTrialcenter Ophthalmology
Outcome results
None listed