Table 1.
Stargardt Patient Demographics, Stage (Fundus Appearance), Visual Acuity, Full-Field Stimulus Test (FST), And Known ABCA4 Mutations.
| Age/Gender | Stage | LogMAR Acuity | Tested Eye | FST Rod, Blue Stimulus (dB) | FST Cone, Red stimulus (dB) | FST Group | ABCA4 Mutations | ||
|---|---|---|---|---|---|---|---|---|---|
| OD | OS | ||||||||
| 1. | 48/M | 1 | 0.92 | 0.90 | OS | −70.7 | −29.1 | 1 | p.Gly863Ala; p.Gly863Ala |
| 2. | 31/F | 1 | 0.82 | 0.80 | OS | −67.5 | −25.6 | 1 | p.Gln636* |
| 3. | 20/M | 1 | 0.88 | 0.78 | OS | −70.4 | −27.6 | 1 | p.Arg1129Cys; p.Arg2077Trp |
| 4. | 30/F | 1 | −0.06 | 0.06 | OD | −69.5 | −27.3 | 1 | p.Arg2077Trp |
| 5. | 21/M | 1 | 0.36 | 0.26 | OS | −71.3 | −25.5 | 1 | p.Arg219Thr; p.Gly863Ala |
| 6. | 41/F | 1 | 0.18 | 0.30 | OD | −69.0 | −28.6 | 1 | p.Val989Ala; p.Val989Ala |
| 7. | 45/F | 1 | 0.06 | 0.04 | OS | −69.5 | −29.5 | 1 | p.Ile975Met; p.Lys1978Glu |
| 8. | 33/M | 2 | 0.80 | 0.84 | OD | −72.4 | −29.0 | 1 | p.Lys2056* |
| 9. | 42/F | 2 | 0.16 | 0.08 | OS | −66.3 | −28.0 | 1 | p.Gly550Arg; p.Arg2030Gln |
| 10. | 22/M | 2 | 0.78 | 0.82 | OD | −74.6 | −30.0 | 1 | p.Tyr850Cys; p.Gly1961Glu; c.5461-10T>C |
| 11. | 47/M | 2 | 0.94 | 0.40 | OS | −70.4 | −26.6 | 1 | p.Gly1087Lys |
| 12. | 21/F | 2 | 0.94 | 0.88 | OS | −68.0 | −21.0 | 2 | c.5018+2T>C; p.Tyr2036Cys |
| 13. | 34/F | 3 | 1.02 | 1.06 | OD | −68.3 | −23.3 | 2 | p.Gly818Glu; p.Cys1488Arg |
| 14. | 34/F | 3 | 0.86 | 0.94 | OD | −68.4 | −20.7 | 2 | p.[Leu541Pro;Ala1038Val]; p.Asp576His |
| 15. | 35/M | 3 | 1.00 | 0.74 | OS | −68.9 | −23.2 | 2 | p.Gly550Arg; c.5714+5G>A |
| 16. | 39/M | 3 | 1.10 | 1.10 | OD | −68.1 | −23.0 | 2 | c.5461-10T>C; c.5714+5G>A |
| 17. | 32/F | 2 | 1.02 | 1.02 | OD | −63.2 | −22.5 | 3 | p.Glu531Gly; c.5461-10T>C |
| 18. | 47/M | 3 | 0.54 | 0.76 | OD | −57.4 | −20.5 | 3 | c.67-2A>G; p.Gly863Ala |
| 19. | 34/M | 3 | 1.28 | 1.28 | OS | −63.1 | −20.0 | 3 | p.[Leu541Pro;Ala1038Val]; p.Asp645Asn; p.Asp645Asn |
| 20. | 40/M | 3 | 1.08 | 0.92 | OS | −56.4 | −20.6 | 3 | Sibling of 16, 21, and 22 (not genotyped) |
| 21. | 52/F | 3 | 0.98 | 1.08 | OD | −61.5 | −22.6 | 3 | c.5461-10T>C; c.5714+5G>A |
| 22. | 50/M | 3 | 0.90 | 1.06 | OD | −61.9 | −18.5 | 3 | c.5461-10T>C; c.5714+5G>A |
| 23. | 50/F | 3 | 1.58 | 1.64 | OD | −52.0 | −16.5 | 3 | p.Gly863Ala; c.5917delG |
| 24. | 47/M | 4 | 1.44 | 1.28 | OS | −51.0 | −18.0 | 3 | p.[Leu541Pro;Ala1038Val]; c.4634+1G>T |
FST normal (n=10) mean thresholds were −69.8 dB (SD 2.5) for the dark adapted blue (rod) stimulus and −27.7 dB (SD 1.5) for the cone plateau red stimulus.