Table 2 of Ponnam, Mol Vis 2008; 14:1204-1208.
Table 2 of Ponnam, Mol Vis 2008; 14:1204-1208.
Table 2. Mutational and clinical status of individuals from family with the LIM2 mutation.
| Individual | Relation with proband | Age at presentation | Age at onset | Genotype | Clinical status |
| V:5 | Proband | 6 years | 3 years | GGG>GAG (homozygous) | Total cataract, surgery at 3 years, amblyopia |
| V:6 | Sibling | 4 years | 1.5 years | GGG>GAG (homozygous) | Total cataract, surgery at 4 years, poor fixation, amblyopia |
| IV:2 | Maternal aunt | 35 years | Birth | GGG>GAG (homozygous) | Surgery at 3 years, nystagmus, amblyopia |
| IV:3 | Maternal uncle | 29 years | <8 years | GGG>GAG (homozygous) | Surgery at 10 years, nystagmus, amblyopia |
| III:8 | Father | 35 years | - | GGG>GAG (heterozygous) | Normal |
| IV:5 | Mother | 27 years | - | GGG>GAG (heterozygous) | Normal |
| II:4 | Maternal grandfather | 55 years | - | GGG>GAG (heterozygous) | Normal |