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. Author manuscript; available in PMC: 2010 Mar 1.
Published in final edited form as: N Engl J Med. 2008 Apr 27;358(21):2240–2248. doi: 10.1056/NEJMoa0802315

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.