Table 2 of
Valverde, Mol Vis 2006;
12:902-908.Table 2 of
Valverde, Mol Vis 2006;
12:902-908.
Table 2.
Clinical data of Stargardt disease patients with the R1129L mutation. "ERG" column lists electroretinographic features. A "1" indicates normal and a "2" indicates minimal rod or cone abnormalities. A hyphen indicates that an ERG was unrecordable. An "x" indicates that no information about an ERG, whether recorded or unrecordable, was obtained. There were no ERGs recorded that showed severe dysfunction. In the "Mac" column, an asterisk indicates the presence of the characteristic macular changes of Stargardt disease. CF represents counting fingers; HM represents hand movements; RPE represents retinal pigmented epithelium; FFM represents fundus flavimaculatus.
Age Actual
Family at Central visual
number Allele 1 Allele 2 Age Sex onset scotoma acuity ERG Mac Additional findings
-------- --------- ------------ --- --- ----- ------- ---------- --- --- -------------------------------
ARDM-76 Ex.23 Ex.6 32 F 9 Yes 0.1/0.1 - No RPE atrophy
(3386G>T) (768G>T)V256
R1129L Splice
B262 Ex.23 Not detected 31 F 10 Yes 0.06/0.08 - Yes Optic pit left eye
(3386G>T)
R1129L
ARDM-78 Ex.23 Not detected 37 F 10 No 0.1/0.1 - No
(3386G>T)
R1129L
B270 Ex.23 Not detected 37 F 10 Yes 0.05/0.2 2 Yes
(3386G>T)
R1129L
ARDM-155 Ex.23 Ex 13 21 M 11 Yes 0.3/0.3 1 Yes RPE atrophy
(3386G>T) (1804C>T)
R1129L R602W
ARDM-57 Ex.23 Ex.42 23 F 15 Yes 0.3/0.4 1 Yes Photosensitive
(3386G>T) (5882G<A)
R1129L G1961E+Ex.48
IVS+21C>T
Splice
ARDM-82 Ex.23 Ex.23 17 M 15 Yes 0.2/0.3 2 Yes Myopia, photosensitive
(3386G>T) (3364G>A)
R1129L E1122K
ARDM-162 Ex.23 No detected 48 F 16 Yes 0.1/0.2 - Yes
(3386G>T)
R1129L
ARDM-66 Ex.23 Ex.41 34 F 17 Yes x No Photosensitive
(3386G>T) (5819T>C)
R1129L L1940P
ARDM-139 Ex.23 Ex 5 42 M 20 Yes 0.1/0.1 - Yes RPE atrophy
(3386G>T) (455G>A)
R1129L R152Q+Ex 22
(3322C>T)
R1108C+Ex 46
(6320G>A)
R2107H
ARDM 96 Ex.23 Ex.35 40 M 21 Yes 0.15/0.1 - No RPE atrophy
(3386G>T) (4918C>T)
R1129L R1640W+Ex.28
(4222T>C)
W1408R
B258 Ex.23 Ex 6 671 45 M 25 Yes HM/0.1 - Yes Accidental retina detachment
(3386G>T) del C
R1129L
ARDM-62 Ex.23 Ex.43 52 M 29 Yes CF/HM 2 Yes Cataract, RPE atrophy, chronic
(3386G>T) (5929G>A) glaucoma
R1129L G1977S
ARDM-31 Ex.23 Ex.35 51 M 40 Yes 0.2/0.5 1 Yes RPE atrophy, parafoveolar
(3386G>T) (4926C>G) teleangiectasia, photosensitive
R1129L S1642R
ARDM-61 Ex.23 Deletion 38 F 9 Yes 0.5/0.5 x Yes Strabismus (2-3 y), RPE
(3386G>T) atrophy, FFM
R1129L
ARDM-111 Ex.23 Ex.23 35 F 31 Yes 0.1/0.8 1 Yes
(3386G>T) (3386G>T)
R1129L R1129L
B223 Ex.23 Ex.23 33 F 21 No 0.16/0.125 1 No Consanguinity
(3386G>T) (3386G>T)
R1129L R1129L
ARDM-119 Ex.23 Ex.23 32 F 19 Yes 0.4/0.1 2 Yes RPE atrophy, dischromatopsy
(3386G>T) (3386G>T)
R1129L R1129L
ARDM-47 Ex.23 Ex.23 27 F 19 Yes 0.1/0.1 2 Yes Strabismus, RPE atrophy, FFM
(3386G>T) (3386G>T)
R1129L R1129L
ARDM-128 Ex.23 Ex.23 41 F 12 Yes 0.1/0.1 - Yes RPE atrophy
(3386G>T) (3386G>T)
R1129L R1129L
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