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