Table 1.
Mutation | Phenotype |
Arg23Thr | Progressive congenital nuclear |
Val44Glu | Congenital or developmental cataract with microcornea |
Glu48Lys | Zonular nuclear pulverulent |
Pro88Ser | Zonular pulverulent |
Pro88Gln | Lamellar pulverulent |
Val79Leu | “Full moon” with Y-sutural opacity |
Arg198Glu | Congenital or developmental cataract with microcornea |
Ile247Met | Zonular pulverulent |