Usher syndrome, retintis pigmentosa Usher syndrome
Conditions
Interventions
None listed
Sponsors
Radboud Universitair Medisch Centrum
Eligibility
Age
No minimum to 17 Years
Inclusion criteria
Inclusion criteria: - clinically diagnosed congenital hearing loss and bi-allelic variants in genes associated with Usher syndrome type 1, of which at least one variant is classified as (likely) pathogenic - age < 18 years - written informed consent is obtained from: parents (children age 0-11), children and parents (children age 12-15), adolescents (age 16-17)
Exclusion criteria
Exclusion criteria: - Mutations in genes that cause autosomal dominant RP, X-linked RP or presence of biallelic mutations in autosomal recessive RP/retinal dystrophy genes other than Usher genes - Current vitreous hemorrhage - History of intraocular surgery - Current or any history of confirmed diagnosis of glaucoma - 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 E-ETDRS visual acuity - Color test results - Visual field sensitivity measured by static perimetry with topographic analysis (Hill of Vision) - Stereo color fundus photography - Fundus autofluorescence photography - Ellipsoid zone (EZ) area as measured by Optical Coherence Tomography - Retinal function using full-field Electroretinography (ERG) amplitudes and timing in response to rod- and cone-specific stimuli - Dark Adaptation Thresholds (DAT) | — |
Secondary
| Measure | Time frame |
|---|---|
| None | — |
Countries
Netherlands
Contacts
Public ContactDH Wijn
Radboud Universitair Medisch Centrum
Outcome results
None listed