Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Retrospective chart review study to elucidate the phenotype and genotype of children with ABCA4-associated Stargardt disease.
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
| Measure | Description | Time Frame |
|---|---|---|
| Best Corrected Visual Acuity (BCVA) | best corrected visual acuity | January 2014 - May 2021 |
| Visual Field (VF) | visual field as measured by semi-automated 90° kinetic visual field exam using target III4e | January 2014 - May 2021 |
| Fundus Photography (FP) | characterization of the retina with fundus photography | January 2014 - May 2021 |
| Fundus Autofluorescence (AF) | characterization of the retina with fundus autofluorescence | January 2014 - May 2021 |
| Optical Coherence Tomography (OCT) | characterization of the retina with optical coherence tomography, e.g. foveal ellipsoid zone loss | January 2014 - May 2021 |
| Full-Field Electroretinography (ff-ERG) | characterization of retinal function with full-field electroretinogram | January 2014 - May 2021 |
Not provided
Not provided
Inclusion Criteria:
Exclusion Criteria:
Not provided
Not provided
Not provided
Not provided
Patients with genetically confirmed ABCA4-associated inherited retinal dystrophy.
Not provided
| Name | Affiliation | Role |
|---|---|---|
| Laura Kuehlewein, MD | Centre for Ophthalmology, University of Tuebingen | Principal Investigator |
| Susanne Kohl, PhD | Molecular Genetics Laboratory, Centre for Ophthalmology, University of Tuebingen | Principal Investigator |
| Jan-Philipp Bodenbender, MD | Centre for Ophthalmology, University of Tuebingen | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| University Hospital Tuebingen | Tübingen | Baden-Wuerttemberg, Germany | 72076 | Germany |
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
| ID | Term |
|---|---|
| D000080362 | Stargardt Disease |
| ID | Term |
|---|---|
| D015785 | Eye Diseases, Hereditary |
| D005128 | Eye Diseases |
| D008268 | Macular Degeneration |
| D012162 | Retinal Degeneration |
Not provided
Not provided
Not provided
Not provided
Not provided
| D012164 |
| Retinal Diseases |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |