Table 6 of Rosenberg, Mol Vis 2007; 13:1962-1969.


Table 6. Identified subjects and alleles with proven or potential disease-associated ABCA4 variants related to phenotype group

The mutation detection rate varies significantly between the clinical groups (Table 1). The highest rates, 87-90% are obtained in Stargardt and flavimaculatus phenotypes, but mutations are also found in 2/3 of the examined cone-rod dystrophies and 60% of the patients with a Bull's eye maculopathy carried one or two ABCA4 mutations.

Phenotype group   Number of subjects with   Disease-associated
 According to      identified mutations          alleles
    Table 1           N (percentage)         N (percentage)
---------------   -----------------------   ------------------
      1                  26 (89.7)               43 (74.1)
      2                  53 (86.9)               84 (68.9)
      3a                  8 (72.8)               12 (54.5)
      3b                 22 (68.8)               32 (51.6)
      4                   6 (66.7)                9 (56.3)
      5a                  6 (60.0)                9 (45.0)
      5b                  3 (27.3)                4 (18.2)

     Sum               124 (77.0%)              197 (61.2)

Rosenberg, Mol Vis 2007; 13:1962-1969 <http://www.molvis.org/molvis/v13/a221/>
©2007 Molecular Vision <http://www.molvis.org/molvis/>
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