Table 1 Clinical features for patients and carriers in this study
From: Identification of a novel GPR143 mutation in a large Chinese family with isolated foveal hypoplasia
ID# | Patient/Carrier | Gender | Age | Mutation | Foveal hypoplasia | Fundus hypopigmentation | Nystagmus | Iris hypopigmentation |
|---|---|---|---|---|---|---|---|---|
II:1 | Patient | male | 65 | Hemizygous | Yes | Obvious | No | No |
III:2 | Carrier | female | 36 | Heterozygous | No | Mild | No | No |
III:7 | Patient | male | 32 | Hemizygous | Yes | Obvious | No | No |
III:12 | Carrier | female | 29 | Heterozygous | No | Mild | No | No |
III:14 | Carrier | female | 26 | Heterozygous | No | Mild | No | No |
III:16 | Carrier | female | 25 | Heterozygous | No | Mild | No | No |
III:17 | Patient | male | 22 | Hemizygous | Yes | Obvious | No | No |
IV:2 | Patient | male | 5 | Hemizygous | Yes | Obvious | No | No |
IV:4 | Carrier | female | 7 | Heterozygous | No | Mild | No | No |
IV:8 | Carrier | female | 5 | Heterozygous | No | Mild | No | No |
IV:9 | Patient | male | 2 | Hemizygous | Yes | Obvious | No | No |
IV:11 | Carrier | female | 0.5 | Heterozygous | No | Mild | No | No |
IV:12 | Patient | male | 6 | Hemizygous | Yes | Obvious | No | No |
IV:15 | Carrier | female | 3 | Heterozygous | No | Mild | No | No |