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