Table 1.
Clinical characterization of the female choroideremia carriers.
| Patient ID | Age at Presentation (yr) | Age of Onset (yr) | BCVA (OD; OS) | Severity of disease | Reason for referral | Other Medical History | Family History of Choroideremia |
|---|---|---|---|---|---|---|---|
| 1 | 23 | 20s | 20/20; 20/30 | Severe | Retinal evaluation | IDH2 brain glioma s/p resection | No |
| 2 | 76 | 40s | 20/30; 20/40 | Severe | Retinitis pigmentosa | n/c | No |
| 3 | 60 | 30s | 20/70; 20/60 | Severe | Choroideremia carrier | n/c | Yes: father, grandson, paternal uncle |
| 4 | 61 | 30s | 20/150; HM | Severe | Macular degeneration | n/c | No |
| 5 | 77 | 60s | 20/30; 20/60 | Intermediate | Findings of RPE atrophy |
n/c | Yes: son |
| 6 | 64 | 60s | 20/25; 20/40 | Intermediate | Retinal evaluation | Diabetic retinopathy, s/p PRP | Yes: father, male cousin |
| 7 | 63 | n/a | 20/25; 20/25 | Intermediate | Asymptomatic screen | n/c | Yes: son, father |
| 8 | 50 | n/a | 20/20; 20/20 | Intermediate | Asymptomatic screen | n/c | Yes: son |
| 9 | 68 | 60s | 20/20; 20/20 | Mild | Macular degeneration | n/c | Yes: son |
| 10 | 29 | 20s | 20/20; 20/25 | Mild | Retinitis pigmentosa | n/c | Yes: 2 brothers, 3 maternal uncles |
| 11 | 53 | n/a | 20/40; 20/40 | Mild | Asymptomatic screen | n/c | Yes: son, brother |
| 12 | 51 | n/a | 20/20; 20/20 | Mild | Asymptomatic screen | n/c | Yes: son |
BCVA = best-corrected visual acuity; HM = hand motion; IDH2 = isocitrate dehydrogenase 2; n/a = nonapplicable; n/c = non-contributory; PRP = panretinal photocoagulation; RPE = retinal pigment epithelium.