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%**** |