Table 1.
Functional and Imaging Outcome Measures in Clinical Trials for IRDs in Table 2, as Documented at www.clinicaltrials.gov
| Disease Gene | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Outcome | Representative Tests | ABCA4 | CEP290 | CNGA3 | CNGB3 | REP1 | RPE65 | RPGR | RS1 |
| Autofluorescence | FAF | X | X | X | |||||
| Color vision | Farnsworth D-15 | X | X | X | X | X | |||
| Contrast sensitivity | Pelli-Robson; quick CSF | X | X | ||||||
| Gaze tracking | Position, stability | X | |||||||
| Lesion size | FAF | X | |||||||
| Light aversion | Light discomfort testing | X | X | ||||||
| Macular sensitivity | Microperimetry | X | X | X | X | X | X | ||
| Mobility assessment | Mobility performance; multiluminance mobility tests | X | X | ||||||
| Patient reported visual outcome | Questionnaires: VFQ-25; Cardiff Visual Ability | X | X | X | X | X | |||
| Pupillary response | Pupillometry | X | X | ||||||
| Quality of life | Questionnaire | X | X | X | X | X | |||
| Reading | Speed; Precision | X | X | ||||||
| Retinal function | ERG, FST | X | X | X | X | X | X | ||
| Retinal structure | OCT | X | X | X | X | X | |||
| Retinal imaging | Fundus examination/photography | X | X | X | X | ||||
| Retinal vasculature | Fluorescein angiography | X | X | ||||||
| Visual acuity | BCVA | X | X | X | X | X | X | X | X |
| Visual field | Perimetry, hill of vision | X | X | X | X | X | |||
BCVA, best corrected visual acuity; CSF, contrast sensitivity function; ERG, electroretinogram; FAF, fundus autofluorescence; VFQ-25, Visual Function Questionnaire-25 item.