Table 1 of Ahuja, Mol Vis 2008; 14:1293-1297.

Table 1. Characteristics of the seven achromatopsia patients examined in this study

Family  Patient Age Gender Visual acuity Gene Allele 1 Allele 2
A IV:1 16 Female 0.2/0.2 CNGA3 Arg283Trp Gly397Val
A IV:2 14 Male 0.2/0.2 CNGA3 Arg283Trp Gly397Val
A III:6 10 Female 0.2/0.2 CNGA3 Gly397Val Gly397Val
A III:7 8 Male 0.25/0.25 CNGA3 Gly397Val Gly397Val
A III:8 5 Female 0.2/0.2 CNGA3 Gly397Val Gly397Val
B III:1 12 Male 0.05/0.05 CNGA3 Arg283Trp Arg283Trp
B III:3 6 Male * CNGA3 Arg283Trp Arg283Trp

The asterisk indicates that the family member was not examined. A diagnosis of achromatopsia was given based on poor visual acuity with normal fundi, photophobia, nystagmus, and lack of color vision yet the presence and independent inheritance of two mutant CNGA3 alleles could not be confirmed unequivocally in either of the pedigrees as only affected patients and no parents were available for segregation analysis.

Ahuja, Mol Vis 2008; 14:1293-1297. http://www.molvis.org/molvis/v14/a154

©2008 Molecular Vision http://www.molvis.org/molvis/

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