Table 3. A summary for the meta analysis of p.D144E effect on previously reported keratoconus

Heterozygous individuals are designated as p.D144E/+, individuals not carrying the p.D144E change as +/+. To date, a total of 504 healthy controls was screened for the c.432C>G leading to the p.D144E change, which was found in one subject by Aldave et al. [35] (1/1008 chromosomes) as well as in one individual that was heterozygous for this mutation out of 90 glaucoma patients by Heon et al. [17]. In clinically affected keratoconus probands, the p.D144E change was observed in four probands out of 243 screened (4/486 chromosomes) [17,31,34].

                                    Keratoconus   Healthy    Glaucoma
   Published study      Genotype     probands     controls   probands
---------------------   ---------   -----------   --------   --------
Heon et al. [17]        p.D144E/+         1            0          1
                           +/+           62          277         89

Bisceglia et al. [31]   p.D144E/+         2            0          -
                           +/+           78          125          -

Aldave et al. [35],     p.D144E/+         1            1          -
Aldave et at. [34]         +/+           99          101          -