Table 3 of Sweeney, Mol Vis 2007; 13:588-593.


Table 3. Proportions of patients with mutations in identified Leber congenital amaurosis genes

The table includes surveys of patients described as having Leber congenital amaurosis (LCA) or early-onset retinal dystrophy. Patients with a detected mutation in one or both alleles in a given gene are considered to have disease due to that gene. We exclude reports of surveys of fewer than nine patients; e.g., we exclude the reports of single patients with mutations in CRX [26] and LRAT [5]. We also do not include papers for which pathogenic mutations could not be distinguished from nonpathogenic rare variants (e.g., the survey of CRB1 by Lotery et al. [27]) or papers that did not specify the number of unrelated LCA or early-onset retinal dystrophy patients screened (e.g. Thompson et al. [4] and Galvin et al.[28]). The single asterisk indicates that in the study by Yzer et al. [29], 58 patients were evaluated for the listed genes except for RDH12, for which only 22 were evaluated. Double asterisk indicates the 97 patients include 82 patients in our current screen and 15 LCA patients previously solved for mutations in other genes and not included in our screen. Triple asterisk indicates the percentage of LCA patients with LRAT mutations is indicated as zero but is definitely higher (see text). Four asterisks indicate the total proportion of patients with mutations identified.

                                                                                                                        Total
                                                                                                                       patients
   Study/Gene       AIPL1    CEP290    CRB1     CRX     GUCY2D    IMPDH1   LRAT    RDH12    RPE65    RPGRIP1   TULP1   screened
-----------------   ------   ------   ------   ------   -------   ------   -----   -----   -------   -------   -----   --------
Marlhens et al.                                                                            1                           12
1997 [30]                                                                                  (8%)
Morimura et al.                                                                            7                           45
1998 [11]                                                                                  (16%)
Freund et al.                                  2                                                                       74
1998 [31]                                      (3%)
Swaroop et al.                                 1                                                                       9
1999 [32]                                      (11%)
Lewis et al.                                                                                                   0       25
1999 [33]                                                                                                      (0%)
Dharmaraj et al.                               2        6                                  3                           100
2000 [34]                                      (2%)     (6%)                               (3%)
Sohocki et al.      11                                                                                                 188
2000 [35]           (6%)
Lotery et al.                                  5        11                                 12                          176
2000 [36]                                      (3%)     (6%)                               (7%)
Silva et al.                                   2                                                                       74
2000 [37]                                      (3%)
Perrault et al.                                         24                                                             118
2000 [38]                                               (20%)
Thompson et al.                                                                            13                          114
2000 [39]                                                                                  (11%)
Ruiz et al.                                                                0                                           38
2001 [24]                                                                  (0%)
Zhang et al.                                   1                                                                       27
2001 [40]                                      (4%)
Rivolta et al.                                 2                                                                       62
2001 [10]                                      (3%)
Dryja et al.                                                                                         3                 57
2001 [16]                                                                                            (5%)
den Hollander et                      7                                                                                52
al. 2001 [41]                        (13%)
Simovich et al.                                                                            8                           98
2001 [42]                                                                                  (8%)
Gerber et al.                                                                                        8                 142
2001 [43]                                                                                            (6%)
Sohocki et al.      3                          1                                                                       27
2001 [44]           (11%)                      (4%)
Sitorus et al.      1                                   0                                  2                           21
2003 [45]           (5%)                                (0%)                               (10%)
Hanein et al.       6                 18       1        38                                 11        8         3       179
2004 [46]           (3%)              (10%)    (1%)     (21%)                              (6%)      (4%)      (2%)
Dharmaraj et al.    26                                                                                                 303
2004 [47]           (9%)
Perrault et al.                                                            0       8                                   179
2004 [25]                                                                  (0%)    (4%)
den Hollander et                      0                                                                                44
al. 2004 [48]                         (0%)
Zernant et al.      16                11       3        24                                 5         10                205
2005 [49]           (6%)              (5%)     (1%)     (12%)                              (2%)      (5%)
Booij et al.                          1                 1                                  2                           9
2005 [50]                             (11%)             (11%)                              (22%)
Bowne et al.                                                      2                                                    24
2006 [51]                                                         (8%)
Yzer et al.         3                 9        0        6                          0*      1         0                 58*
2006 [29]           (5%)              (15%)    (0%)     (10%)                      (0%)    (2%)      (0%)
den Hollander et             16                                                                                        76
al. 2006 [52]                (21%)
Sweeney et al.                                                             0                                           97**
2007                                                                       (0%)
Totals              66/981   16/76    46/547   20/991   110/866   2/24     0/314   8/201   65/1017   29/641    3/204
Overall Frequency   7%       21%      8%       2%       13%       8%       0%***   4%      6%        5%        1%      75%****

Sweeney, Mol Vis 2007; 13:588-593 <http://www.molvis.org/molvis/v13/a63/>
©2007 Molecular Vision <http://www.molvis.org/molvis/>
ISSN 1090-0535