Prospective clinical evaluation of inherited retinal diseases

Not yet recruiting

Conditions: Inherited retinal diseases, Stargardt disease, retinal dystrophyErfelijke netvlies aandoeningen, de ziekte van Stargardt, netvliesdystrofie

Registration Number: NL-OMON20528

Lead Sponsor: Radboud University Medical Center

Brief Summary: Not available

Detailed Description: Not available

Recruitment & Eligibility

Status: Pending

Sex: Not specified

Target Recruitment: 40

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

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

Study & Design

Study Type: Observational non invasive

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
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 Outcome Measures