Table 1. Genotype and Baseline Characteristics of Participants and Study Eyes of the Prospective ProgStar Study.
| Characteristics | Participants, No. (%) |
|---|---|
| Total No. | 259 |
| Genotypea | |
| A | 8 (3.1) |
| B | 98 (37.8) |
| C | 99 (38.2) |
| D | 54 (20.9) |
| Age at baseline visit, median (IQR) [range], y | 31 (21-44) [7-69] |
| Sex | |
| Male | 118 (45.6) |
| Female | 141 (54.4) |
| Race/ethnicity | |
| White | 222 (85.7) |
| Black/African descent | 20 (7.7) |
| Asian/Indian | 10 (3.9) |
| Other (Pakistan, near east, or multiple races) | 3 (1.2) |
| Do not know | 4 (1.5) |
| Age at symptom onset, y | |
| Asymptomatic | 2 (0.8) |
| Unknown | 16 (6.2) |
| Known | 241 (93.0) |
| Age at symptom onset among known, median (IQR) [range], y | 19 (12-29) [4-64] |
| Duration since symptom onset at the baseline visit, median (IQR) [range], y | 9 (5-15) [0-55] |
| Eye-level clinical characteristics | |
| No. of study eyes | 489 |
| Fovea point lesion involvement statusb | |
| Definitely decreased AF | 130 (29.1) |
| Questionable decreased AF | 260 (58.2) |
| Increased AF | 21 (4.7) |
| Normal AF | 36 (8.1) |
| BCVA, median (IQR) [range] | |
| VA in ETDRS letter score | 41 (35-52) [20-88] |
| Equivalent logMAR | 0.88 (0.66 to 1.00) [−0.06 to 1.30] |
| Categorized BCVA | |
| No VI (≥Snellen 20/25 or logMAR ≤0.1) | 17 (3.5) |
| Mild VI (<Snellen 20/25-20/70 or logMAR 0.1-0.54) | 83 (17.0) |
| Moderate VI (<Snellen 20/70-20/200 or logMAR 0.54-1.0) | 267 (54.6) |
| Severe VI (<Snellen 20/200-20/400 or logMAR 1.0-1.3) | 122 (25.0) |
| Blindness (<20/400 or logMAR >1.3) | 0 |
| Dilated fundus examination results | |
| Total, No.c | 483 |
| RPE pigmentary abnormality | |
| No | 159 (32.9) |
| Yes | 324 (67.1) |
| Flecks outside arcades | |
| No | 262 (54.2) |
| Yes | 220 (45.6) |
| Cannot determine | 1 (0.2) |
Abbreviations: AF, autofluorescence; BCVA, best-corrected visual acuity; ETDRS, Early Treatment Diabetic Retinopathy Study; IQR, interquartile range; RPE, retinal pigment epithelium; VA, visual acuity; VI, visual impairment.
a
Genotype group is defined in the Box.
b
Fovea point lesion status was graded for 447 study eyes from participants with a known age of onset.
c
Fundus examination was completed in 483 eyes, and results also included results on presence of nerve pallor, nerve cupping, macula edema, RPE atrophy, vascular attenuation, and peripheral abnormalities. These variables did not show much variability in distribution and were reported in our prior article,4 and thus are not presented here.