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. Author manuscript; available in PMC: 2009 Jan 21.
Published in final edited form as: Invest Ophthalmol Vis Sci. 2007 Mar;48(3):1319–1329. doi: 10.1167/iovs.06-0764

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.