Table 1 of
Akhtar, Mol Vis 2025; 31:555-567.
Table 1. Demographic and clinical features of probands of 10 ABCA4 retinopathies families described in this study.
| Sr. No. | Family ID | Proband ID | Ethnicity | No. of cases in family | Disease | Age in years at | Visual Acuity | Symptoms | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Enrollment | onset | (OD) | (OS) | DCV | Photophobia | Nyctalopia | Others | ||||||
| 1 | RD008 | III.V | Pashtun | 2 | STGD | 12 | By birth | 6/60* | 6/60* | - | + | + | Hyperopia, Astigmatism |
| 2 | RD013 | IV.IV | Punjabi | 2 | STGD | 18 | 5 | 6/96* | 7/76* | - | - | - | - |
| 3 | RD018 | IV.IV | Punjabi | 2 | STGD | 11 | By birth | 6/120* | 6/76* | + | + | - | Hyperopia, Nystagmus |
| 4 | RD030 | IV.III | Punjabi | 5 | STGD | 19 | 8 | 6/120* | 6/120* | + | - | - | Nystagmus |
| 5 | RD033 | IV.I | Punjabi | 3 | STGD | 18 | By birth | 6/120* | 6/60* | + | + | - | Astigmatism, Nystagmus |
| 6 | RP053 | V.IX | Punjabi | 7 | STGD | 12 | By birth | N/A | N/A | - | - | + | - |
| 7 | RP074 | III.IV | Muhajir | 3 | RP | 34 | By birth | N/A | N/A | + | + | + | - |
| 8 | RP171 | IV.I | Punjabi | 5 | RP | 28 | By birth | 6/24** | 6/9** | - | + | + | - |
| 9 | RP179 | IV.V | Punjabi | 4 | RP | 70 | By birth | No vision | No vision | + | + | + | Hemeralopia, cataract, Nystagmus |
| 10 | RP186 | III.III | Pashtun | 2 | RP | 26 | By birth | 1/60** | 2/60** | - | + | + | Hemeralopia |