arRPL | R91W, Y368H | 7 mo, nystagmus, fixation on light | 7 y, VA 20/100; VF V4+; III4, II/4− | 7 mo, rod and cone ERGs residual; 7 y, ERGs nonrecordable | 7 y, current age* |
arRP76 | Y79H, E95Q | 3 y, nightblind; 20 y, diagnosis RP | No data | No data | 40 y, able to read; 58 y, small islands of residual vision |
arRP114 | R124X, R234X | Birth, nightblind; 5 y, diagnosis RP | No data | No data | 17 y, able to read; 42 y, LPO |
arRP181 | IVS1+5g→a, IVS1+5g→a | Young child, nightblind | No data | No data | Attended regular school; 10 y, RP diagnosis; 14 y, able to read; 18 y, legally blind |
arRP188 | D167Y, 831del8 | Birth, nightblind | No data | No data | 19 y, unable to walk alone; 25 y, no LP, † |
arRP192 | M1T, R91W | 2 y, nightblind | 6 y, central VA acceptable in bright light | No data | 18 y, poor VFs; 38 y, able to read; 48 y, LPO |
arRP341 | IVS1+5g→a, 144ins T | 4 mo, nystagmus fixation on light | 6 y, VA 20/200, RE and 20/100 LE; VF III4+, II4− hyperopic | 1 y, rod absent, cone abnormal ERG; 6 y, ERGs nonrecordable | 8 y, VF and monocular VAs unchanged* |
arRP697 | IVS1+5g→a, E102X | 2 y, nystagmus, nightblind; 6 y, onset of VA loss | Best VA 20/200, myopic | 18 y, ERG nonrecordable | 18 y, legally blind; 31 y, unable to read; 37 y, CF, VFs unrecordable |
arRP713 | IVS1+5g→a, 669delCA | 3 y, nystagmus, nightblind, poor VA | 16 y, VA 20/200, VF V4 20°, III4−, hyperopic | 29 y, ERG nonrecordable | 30 y, VA 20/600; 35 y, LPO, VFs nonrecordable |
arRP849 | E102X, E102X | Infant, nystagmus, nightblind, poor VA | 6 y, VF ring scotomas | 6 y, rod ERG absent; 12 y, cone ERG absent | 16 y, VA 20/400 |
arRP850 | IVS1+5g→a, T457N, 1114delA | 3 y, nystagmus | 4 y, VA 20/100; VF III4+, II4−, hyperopic, astigmatism | 6 y, rod and cone ERGs nonrecordable | 6 y, current age* |
LCA816 | 669del CA, G528V | 6 mo, nystagmus, nightblind, poor VA | Best VA 20/200, myopic, astigmatism, 15 y, VF III4−, V4 10° | 15 y, ERG nonrecordable | Attended school for the blind, 30 y, no LP and 20/400, VF nonrecordable |
LCA820 | R91W, R91W | 3 y, nystagmus, nightblind, poor VA | Best VA 20/200, plano 23 y, VF V4 8° | 23 y, ERG nonrecordable | 30 y, VA 20/100 and 1/40, VF V/4 3° |
LCA821 | IVS1+5g→a, G436V | Birth, nystagmus, nightblind, poor VA | Best VA 20/100, hyperopic, astigmatism | 19 y, ERG nonrecordable | 19 y, rapid deterioration; 21 y, VF V4 5°; 25 y, VA 20/200 and 1/40 |
PMK18/1 | IVS8+1g→t, IVS8+1g→t | Young child | 9 y, VA 20/60 RE, CF LE | No data | 11 y, current age, † |
PMK30/265 | P363T, P363T | 3–7 y, nystagmus, nightblind | CF and hand movements | No data | Severe visual handicap between 5 and 12 y, † |
1024 | R91Q, IVS7+4a→g | Toddler, nystagmus, nightblind | 20 y, VA 20/400; refraction−200 | 20 y, rod ERG absent, cone ERG abnormal | Residual central and peripheral field islands |
1348 | 344del20, 344del20 | Before 5 y, nystagmus | 7 y, VA 20/200; refraction+100 | 7 y, abnormal cone ERG | 16 y, entered school for blind using low vision aids |
1723 | IVS1+5g→a, IVS1+5g→a | Before 5 y, nystagmus | 8 y, VA 20/200; refraction +400 | 35 y, rod and cone ERGs not detectable | 50 y, small residual islands of vision |
2711 | IVS1+5g→a, Y368H | 5 y, nystagmus, nightblind | 5 y, VA 20/60–20/100 10 y, VF 90° to V4e, cannot see V2e | 5 y, rod and cone ERGs not detectable | 30 y, VF peripheral residual islands only to IV4e, V4e |