TABLE 1.
Clinical and Molecular Characteristics of the Patients
Patient | Age (y)/Gender | ABCA4 Mutation | Visual Acuity* | Refraction† | Kinetic Visual Field Extent (V-4e)‡ | Lutein Trial Participant? | |||
---|---|---|---|---|---|---|---|---|---|
RE | LE | RE | LE | RE | LE | ||||
1 | 14/M | G863A/R943Q | 20/32 | 20/32 | −0.50 | −0.50 | 109 | 105 | Y |
2 | 17/F | E1087K/G1961E | 20/25 | 20/25 | −1.00 | −1.25 | 103 | 104 | N |
3 | 18/M | IVS48+21C>T | 20/20 | 20/125 | −1.00 | −1.00 | 126 | 105 | N |
4§ | 19/F | R1129L/L1940P | 20/40 | 20/50 | +0.25 | +0.25 | 90 | 93 | Y |
5 | 21/M | P1511del1ccgC/R1705Q | 20/25 | 20/25 | −0.75 | −0.25 | 103 | 107 | Y |
6 | 24/M | T1019M/G1961E | 20/50 | 20/200 | −1.25 | −1.50 | 112 | 105 | Y |
7§ | 26/M | ∥ | 20/40 | 20/32 | +1.00 | +0.75 | 86 | 88 | Y |
8 | 30/F | ∥ | 20/50 | 20/40 | +2.25 | +1.75 | 105 | 110 | Y |
9 | 30/M | R1108C/R152Q | 20/20 | 20/32 | −2.25 | −3.50 | 99 | 93 | Y |
10 | 32/F | V935A/IVS40+5G>A | 20/32 | 20/40 | −0.75 | −1.25 | 103 | 92 | N |
11 | 34/F | R681X/R1300Q | 20/20 | 20/20 | −1.50 | −1.75 | 110 | 96 | N |
12 | 37/M | C54Y/G1961E | 20/32 | 20/25 | −3.00 | −2.00 | 99 | 105 | Y |
13# | 38/F | V256V/G1961E | 20/25 | 20/25 | −1.00 | −1.25 | 106 | 101 | Y |
14# | 42/F | V256V/G1961E | 20/25 | 20/32 | −0.50 | −0.75 | 107 | 94 | Y |
15 | 47/F | R1300Q/R2107H | 20/32 | 20/20 | +0.75 | +0.25 | 108 | 103 | N |
16§ | 49/M | ∥ | 20/32 | 20/32 | −4.50 | −4.50 | 84 | 79 | Y |
17 | 56/M | G1977S | 20/25 | 20/25 | −5.50 | −5.50 | 99 | 109 | N |
Best corrected visual acuity.
Spherical equivalent.
Expressed as a percentage of normal mean of V-4e target; 2 SD below normal equals 90%.
Clinical diagnosis of cone-rod dystrophy; remaining patients had a clinical diagnosis of Stargardt disease.
Mutation unknown.
Patients are siblings.