Table 1.
Characteristics of the Patients and Test Results before and after Injection.*
Patient No. | Age | Sex | Mutation | Nystagmus Frequency† | Anomalies on OCT‡ | Visual Acuity | Visual Field | ||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ETDRS§ | LogMAR Score¶ | ||||||||||||||||||||||
Right | Left | Right | Left | Right | Left | Right | Left | Right | Left | ||||||||||||||
Before | After | Before | After | Before | After | Before | After | Before | After | Before | After | Before | After | Before | After | Before | After | Before | After | ||||
yr | Hz | degree | |||||||||||||||||||||
1 | 26 | F | Homozygote p.Glu102Lys c.304G→A |
2.0 | 1.2 | 2.0 | 1.2 | ND | ND | ND | ND | Hand motion |
20/1050‖ | 20/1040 | 20/1100 | 2.0 | 1.72‖ | 1.72 | 1.74 | 41 | 177 | 36 | 26 |
2 | 26 | M | Homozygote p.Glu102Lys c.304G→A |
1.0 | 0.9 | 1.0 | 0.9 | EM | MH | ND | ND | Hand motion |
20/710‖ | 20/500 | 20/220 | 2.0 | 1.55‖ | 1.40 | 1.04 | 62 | 213 | 55 | 75 |
3 | 19 | F | Homozygote p.R234X c.700C→T |
1.5 | 1.4 | 1.37 | 1.1 | ND | ND | ND | ND | 20/640 | 20/290** | 20/220 | 20/210 | 1.50 | 1.16** | 1.05 | 1.03 | 147 | 210 | 203 | 160 |
EM denotes epiretinal membrane, ETDRS Early Treatment Diabetic Retinopathy Study, logMAR log10 of the minimum angle of resolution, MH macular hole, ND not detectable, and OCT optical coherence tomography.
The frequency of nystagmus was measured from short videotaped sequences, and the significance of these results cannot be calculated.
Measurements of precise retinal thicknesses by OCT varied because of the lack of fixation and the presence of nystagmus, so retinal thickness was estimated on some of the macular scans. However, OCT was useful in detecting structural anomalies, such as EM and MH.
The detection of hand motion corresponds to a visual acuity of a Snellen equivalent of <20/2000, according to ETDRS charts and letter counts.
The logMAR score ranges from 0.00 to 2.00, with higher values indicating poorer vision.
P<0.001.
P = 0.002.