Table 2.
OPTN Glu50Lys Mutations in 4 cohorts | ||||
---|---|---|---|---|
Instances of Glu50Lys per cohort | 7/52 | 1/105 | 2/132 | 1/67 |
Inheritance pattern | AD | NA | NA | NA |
Penetrance | 70.40% | NA | NA | NA |
IOP data (mm Hg) | 81.6% had IOP < 21 | NA | NA | Mean Max IOP = 16 |
References | Rezaie et al, 2002 | Alward et al, 2003 | Aung et al, 2003 | Hauser et al 2006 |
AD: autosomal dominant, NA: Not available.