Table.
Summary of Clinical Studies in 4 AZOOR Patients
| Best- Corrected Visual Acuity | ffERGa | mfERGb | Micro- perimetry | HVFc | SDOCTd | AOSLOe | Antibody against ~45kd antigen | |
|---|---|---|---|---|---|---|---|---|
| Case 1 | OD: 20/20 OS: 20/20 |
Normal amplitude and timing OU, no significant interocular asymmetry | Reduced response densities and delayed timing in the region of scotoma OU | Not performed | Paracentral scotoma OU with normal foveal sensitivities (37 dB OD, 38dB OS) | Disrupted IS/OSf junction OD in the region of reduced cone reflectivity | Reduced cone reflectivity in the region of scotoma OD | Not detected |
| Case 2 | OD: 20/20 OS: 20/20−1 |
20% decrease in photopic and scotopic amplitudes OS compared to OD | Reduced response densities and delayed timing in the region of scotoma OS | Cone-mediated scotoma with rod- mediated sensitivity in the region of scotoma OS | Paracentral scotoma with normal foveal sensitivity (40dB) OS | Reduced reflectance of IS/OS junction within scotoma region OS | Absence of cones in the region of scotoma OS with higher density cells suspected to be rods | Not detected |
| Case 3 | OD: 20/200+1 OS: 20/20 |
Reduced photopic b- wave amplitude by 33% OD relative to OS and reduced 30Hz flicker implicit time (30ms OD vs 27.5ms OS ) | Reduced response densities and delayed timing centrally OD | Severe loss of foveal sensitivity by 3.5 log units OD | Temporal scotoma extending into fixation OD | Relative thinning of outer nuclear layer and ganglion cell layer, intact ELM- OS/RPE in the region of scotoma OD | Normal cone mosaic in the region of reduced foveal sensitivity OD | Not detected |
| Case 4 | OD: 20/200 OS: 20/200 |
Normal amplitude and timing OU, 20–25% lower response to all stimuli OD compared to OS | Reduced response densities and delayed timing centrally OU | Reduced sensitivity in the fovea OU | Central scotoma OU with reduced foveal sensitivities (18dB OD, 26dB OS) | Loss of IS/OS junction in the central macula with thinning of outer nuclear layer OD | Abnormal cone coverage and spacing within macula OD | Detected |
a
full-field electroretinography
b
multifocal electroretinography
c
Humphrey visual field
d
spectral-domain optical coherence tomography
e
adaptive optics scanning laser ophthalmoscopy
f
inner segment/outer segment